{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T11:48:54Z","timestamp":1769514534595,"version":"3.49.0"},"reference-count":156,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[1998,12,1]],"date-time":"1998-12-01T00:00:00Z","timestamp":912470400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[1998,12,1]],"date-time":"1998-12-01T00:00:00Z","timestamp":912470400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2002,7,4]],"date-time":"2002-07-04T00:00:00Z","timestamp":1025740800000},"content-version":"vor","delay-in-days":1311,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["bmn.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Current Opinion in Biotechnology"],"published-print":{"date-parts":[[1998,12]]},"DOI":"10.1016\/s0958-1669(98)80135-3","type":"journal-article","created":{"date-parts":[[2002,10,11]],"date-time":"2002-10-11T12:45:26Z","timestamp":1034340326000},"page":"578-594","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":235,"title":["Linkage disequilibrium mapping of complex disease: fantasy or reality?"],"prefix":"10.1016","volume":"9","author":[{"given":"Joseph D","family":"Terwilliger","sequence":"first","affiliation":[]},{"given":"Kenneth M","family":"Weiss","sequence":"additional","affiliation":[]}],"member":"78","reference":[{"key":"10.1016\/S0958-1669(98)80135-3_BIB1","author":"Confucius","year":"1996"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB2_1","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/885","article-title":"It's raining SNPs, hallelujah","volume":"19","author":"Chakravarti","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB3","first-page":"1088","article-title":"Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus","volume":"56","author":"Nikali","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB4","doi-asserted-by":"crossref","first-page":"1516","DOI":"10.1126\/science.273.5281.1516","article-title":"The future of genetic studies of complex human diseases","volume":"273","author":"Risch","year":"1996","journal-title":"Science"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB5","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1111\/j.1601-5223.1972.tb01021.x","article-title":"The Finnish population structure: a genetic and genealogical study","volume":"71","author":"Nevanlinna","year":"1972","journal-title":"Hereditas"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB6","doi-asserted-by":"crossref","first-page":"1257","DOI":"10.1016\/0092-8674(94)90016-7","article-title":"A missense mutation of the endothelin-B receptor gene in multigenic Hirschspung's disease","volume":"79","author":"Puffenberger","year":"1994","journal-title":"Cell"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB7","first-page":"970","article-title":"Variability of the genetic contribution of Quebec population founders associated to some deleterious genes","volume":"56","author":"Heyer","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajpa.1330980102","article-title":"Genetic consequences of differential demographic behaviour in the Seguenay region, Qu\u00e9bec","volume":"98","author":"Heyer","year":"1995","journal-title":"Am J Phys Anthropol"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB9","first-page":"18","article-title":"Likelihood methods for locating disease genes in nonequilibrium populations","volume":"56","author":"Kaplan","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB10","author":"Weiss","year":"1995"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB11","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1006\/mpev.1996.0019","article-title":"Is there a paradigm shift in human genetics? Lessons from the study of human diseases","volume":"5","author":"Weiss","year":"1996","journal-title":"Mol Phylogenet Evol"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB12_1","article-title":"Perspective: in search of human variation","author":"Weiss","year":"1998","journal-title":"Genome Res"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB13","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1002\/bies.950180207","article-title":"The nature of quantitative genetic variation revisited: lessons from Drosophila bristles","volume":"118","author":"Mackay","year":"1996","journal-title":"BioEssays"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB14","first-page":"10","article-title":"Variable expressivity of patched mutations in flies and humans","volume":"60","author":"Bale","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB15","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1073\/pnas.87.2.701","article-title":"Localizing mutliple X-linked retinitis pigmentosa loci using extended multi-locus homogeneity tests","volume":"87","author":"Ott","year":"1990","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB16_1","first-page":"758","article-title":"Nonsyndromic hearing impairment: unparalleled heterogeneity","volume":"60","author":"van Camp","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB17","doi-asserted-by":"crossref","first-page":"9119","DOI":"10.1073\/pnas.85.23.9119","article-title":"Admixture as a tool for finding linked genes and detecting that difference from allelic association between loci","volume":"85","author":"Chakraborty","year":"1988","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB18_1","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1159\/000022794","article-title":"Mapping genes through the use of linkage disequilibrium generated by genetic drift: \u2018drift mapping\u2019 in small populations with no demographic expansion","volume":"48","author":"Terwilliger","year":"1998","journal-title":"Hum Hered"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB19_1","first-page":"197","article-title":"Allelic disequilibrium and allele frequency distribution as a function of social and demographic history","volume":"60","author":"Thompson","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB20_1","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1038\/ng1297-435","article-title":"Demographic history and linkage disequilibrium in human populations","volume":"17","author":"Laan","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB21","first-page":"95","article-title":"Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and analysis with intragenic polymorphic markers","volume":"60","author":"Perez","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB22_1","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/907","article-title":"DNA sequence diversity in 19.7 kb region of the human lipoprotein lipase gene","volume":"19","author":"Nickerson","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB23_1","doi-asserted-by":"crossref","DOI":"10.1086\/301977","article-title":"Haplotype structure and population genetic inferences from nucleotide sequence variation in human lipoprotein lipase","author":"Clark","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB24","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/BF00145343","article-title":"Application of cladistics to the analysis of genotype-phenotype relationships","volume":"8","author":"Sing","year":"1992","journal-title":"Eur J Epidemiol"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB25","first-page":"259","article-title":"Cladistic approaches to identifying determinants of variability in multifactorial phenotypes and the evolutionary significance of variation in the human genome","volume":"197","author":"Templeton","year":"1996","journal-title":"Ciba Found Symp"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB26","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1093\/genetics\/146.1.89","article-title":"The estimation of the number and length distribution of gene conversion tracts from population DNA sequence data","volume":"146","author":"Bertran","year":"1997","journal-title":"Genetics"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB27","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1086\/513913","article-title":"When is a deletion not a deletion? When is it converted?","volume":"61","author":"Burghes","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB28","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1086\/513886","article-title":"Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype","volume":"61","author":"Campbell","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB29","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/s004390050500","article-title":"Evidence for gene conversion in the generation of extensive polymorphism in the promoter of the growth hormone gene","volume":"100","author":"Giordano","year":"1997","journal-title":"Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB30","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/S0378-1119(97)00416-2","article-title":"Molecular analysis of gene conversion in spermatids from transgenic mice","volume":"200","author":"Hanneman","year":"1997","journal-title":"Gene"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB31","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1111\/j.1601-5223.1997.00097.x","article-title":"Role of gene conversion in generating polymorphisms at major histocompatibility complex loci","volume":"127","author":"Ohta","year":"1997","journal-title":"Hereditas"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB32","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1128\/MCB.18.1.93","article-title":"Gene conversion tracts from double-strand break repair in mammalian cells","volume":"18","author":"Elliott","year":"1998","journal-title":"Mol Cell Biol"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB33","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1086\/515498","article-title":"Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population","volume":"61","author":"Laiho","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB34","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1086\/301722","article-title":"Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts to 19q13","volume":"62","author":"Pekkarinen","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB35","first-page":"211","article-title":"Genetic architecture of common multifactorial diseases","volume":"197","author":"Sing","year":"1996","journal-title":"Ciba Found Symp"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB36_1","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1086\/514893","article-title":"What is significant in whole-genome linkage disequilibrium studies?","volume":"61","author":"Kruglyak","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB37","doi-asserted-by":"crossref","first-page":"1513","DOI":"10.1086\/515475","article-title":"Fine-scale genetic mapping based on linkage disequilibrium: theory and applications","volume":"60","author":"Xiong","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB38","first-page":"87","article-title":"The molecular basis of partial penetrance of splicing mutations in cystic fibrosis","volume":"60","author":"Rave-Harel","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB39","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1086\/301756","article-title":"Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1","volume":"62","author":"Gantla","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB40","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1086\/515499","article-title":"Deletion of RB exons 24 and 25 causes for penetrance retinoblastoma","volume":"61","author":"Bremner","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB41","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1086\/514886","article-title":"The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies","volume":"61","author":"D'Adamo","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB42","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1086\/301624","article-title":"Inherited interstitial duplication of proximal 15q: genotype-phenotype correlations","volume":"61","author":"Browne","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB43","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1086\/301604","article-title":"Mutation characterization and genotype-phenotype correlation in Barth syndrome","volume":"61","author":"Johnston","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB44","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.1086\/301638","article-title":"Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations","volume":"61","author":"Kayaalp","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB45","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1086\/301699","article-title":"Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families","volume":"62","author":"Cavalier","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB46","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1086\/301755","article-title":"Genotype-phenotype relationships in Ataxia-telangiectasia and variants","volume":"62","author":"Gilad","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB47","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1086\/301806","article-title":"Identification of constitutional WT1 mutations in patients with isolated diffuse mesangial sclerosis, and analysis of genotype\/phenotype correlations by use of a computerized mutation database","volume":"62","author":"Jean-Pierre","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB48","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1086\/301748","article-title":"Identification of novel mutations in the Ryanodine-receptor gene (RYR1) in malignant hypothermia: genotype-phenotype correlation","volume":"62","author":"Manning","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB49","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1086\/301682","article-title":"Genotype-phenotype correspondence in Sanfilippo syndrome type B","volume":"62","author":"Zhao","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB50_1","doi-asserted-by":"crossref","first-page":"1516","DOI":"10.1086\/301871","article-title":"Missense mutations in disease genes: a Bayesian approach to evaluate causality","volume":"62","author":"Petersen","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB51","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1007\/BF01245622","article-title":"Linkage disequilibrium in finite populations","volume":"38","author":"Hill","year":"1968","journal-title":"Theor Appl Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB52","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1093\/genetics\/137.1.331","article-title":"Linkage disequilibrium in growing and stable populations","volume":"137","author":"Slatkin","year":"1994","journal-title":"Genetics"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB53","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1038\/ng1297-371","article-title":"Expanding on population studies","volume":"17","author":"Freimer","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB54_1","doi-asserted-by":"crossref","DOI":"10.1086\/301972","article-title":"Mapping genes by drift-generated linkage disequilibrium","author":"Laan","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB55","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/ng1195-241","article-title":"Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results","volume":"11","author":"Lander","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB56","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1086\/513888","article-title":"FCER1-\u03b2 polymorphism and total serum IgE levels in endemically parasitized Australian aborigines","volume":"61","author":"Palmer","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB57","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1086\/301688","article-title":"The gene for severe combined immunodeficiency disease in Athabaskan-speaking native americans is located on chromosome 10p","volume":"62","author":"Li","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB58","first-page":"188","article-title":"Mapping genes underlying ethnic differences in disease risk by linkage disequilibrum in recently admixed populations","volume":"60","author":"McKeigue","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB59_1","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1086\/301908","article-title":"Mapping genes that underlie ethnic differences in disease risk: methods for detecting linkage in admixed populations, by conditioning on parental admixture","volume":"63","author":"McKeigue","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB60","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1086\/301760","article-title":"Marker selection for the transmission\/disequilibrium test, in recently admixed populations","volume":"62","author":"Kaplan","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB61","first-page":"145","article-title":"Caucasian genes in American Blacks: new data","volume":"50","author":"Chakraborty","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB62","first-page":"41","article-title":"Breakup of an isolate","volume":"47","author":"Harvald","year":"1988","journal-title":"Arctic Med Res"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB63","first-page":"171","volume":"48","author":"Harvald","year":"1989","journal-title":"The genetic epidemiology of Greenland Arctic Med Res"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB64","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1159\/000154077","article-title":"The structure of the polar Eskimo genealogy","volume":"42","author":"Edwards","year":"1992","journal-title":"Hum Hered"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB65","first-page":"777","article-title":"A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci","volume":"56","author":"Terwilliger","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB66","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1006\/geno.1995.9003","article-title":"A comparison of linkage disequilibrium methods for fine mapping","volume":"29","author":"Devlin","year":"1995","journal-title":"Genomics"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB67_1","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1086\/301678","article-title":"Linkage disequilibrium and gene mapping an empirical least-squares approach","volume":"62","author":"Lazzeroni","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB68","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1002\/(SICI)1096-8628(19970725)74:4<353::AID-AJMG3>3.0.CO;2-Q","article-title":"Schizophrenia in the genetic isolate of Finland","volume":"74","author":"Hovatta","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB69_1","article-title":"A genomewide screen for schizophrenia genes in an isolated Finnish subpopulation suggesting multiple susceptibility loci","author":"Hovatta","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB70","first-page":"23","article-title":"Mapping genes predisposing to complete traits in extreme population isolates","author":"Terwilliger","year":"1997","journal-title":"CSC News"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB71","author":"Cavalli-Sforza","year":"1993"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB72_1","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1038\/ng0498-307","article-title":"Human genome diversity \u2014 a project?","volume":"18","author":"Harding","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB73","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1086\/515510","article-title":"Multilocus genotypes, a tree of individuals, and human evolutionary history","volume":"61","author":"Mountain","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB74","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1007\/s004390050811","article-title":"An ecological study of association between coronary heart disease mortality rates in men and the relative frequencies of common allelic variations in the gene coding for apolipoprotein E","volume":"103","author":"Stengard","year":"1998","journal-title":"Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB75","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1093\/hmg\/6.7.1003","article-title":"Evidence by allelic association-dependent methods for a type 1 diabetes polygene (IDDM6) on chromosome 18q21","volume":"6","author":"Merriman","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB76","first-page":"717","article-title":"HLA Class II DR-DO amino acids and insulin-dependent diabetes mellitus: application of the haplotype method","volume":"60","author":"Valdes","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB77","year":"1995"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB78","first-page":"1013","article-title":"Population genetics of BRCA1 and BRCA2","volume":"60","author":"Szabo","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB79","first-page":"506","article-title":"Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM)","volume":"52","author":"Spielman","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB80","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1159\/000154096","article-title":"A haplotype-based haplotype relative risk statistic","volume":"42","author":"Terwilliger","year":"1992","journal-title":"Hum Hered"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB81","first-page":"691","article-title":"Power studies for the transmission\/disequilibrium test with multiple alleles","volume":"60","author":"Kaplan","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB82","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1086\/301714","article-title":"A sibship test for linkage in the presence of association: the sib transmission\/disequilibrium test","volume":"62","author":"Spielman","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB83","first-page":"319","article-title":"Use of siblings as controls in case-control association studies","volume":"61","author":"Curtis","year":"1997","journal-title":"Ann Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB84","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1002\/(SICI)1098-2272(1997)14:6<1113::AID-GEPI92>3.0.CO;2-J","article-title":"Genotype relative-risks and association tests for nuclear families with missing parental data","volume":"14","author":"Schaid","year":"1997","journal-title":"Genet Epidemiol"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB85","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1086\/301787","article-title":"Genetic association mapping based on discordant sib pairs: the discordant alleles test","volume":"62","author":"Boehnke","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB86","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1086\/301674","article-title":"Incorporating genotype of relatives into a test of linkage disequilibrium","volume":"62","author":"Excoffier","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB87","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1016\/S0002-9297(07)64343-2","article-title":"Transmission\/disequilibrium tests for multiallelic loci","volume":"61","author":"Sham","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB88","first-page":"676","article-title":"Transmission-disequilibrium tests for quantitative traits","volume":"60","author":"Allison","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB89_1","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1159\/000154433","article-title":"Transmission\/disequilibrium test for quantitative trait loci","volume":"47","author":"Rabinowitz","year":"1997","journal-title":"Hum Hered"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB90_1","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1086\/514855","article-title":"True and false positive peaks in genome-wide scans: applications of length-biased sampling to linkage mapping","volume":"61","author":"Terwilliger","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB91","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1086\/514860","article-title":"Tests for linkage and association in nuclear families","volume":"61","author":"Martin","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB92","first-page":"979","article-title":"Combining information within and between pedigrees for mapping complex traits","volume":"60","author":"Teng","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB93_1","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1093\/hmg\/6.5.813","article-title":"Identification of a major susceptibility locus on chromosome 6p and evidence for further disease loci revealed by a two-stage genomewide search psoriasis","volume":"6","author":"Trembath","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB94_1","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1086\/301909","article-title":"Mapping of complex traits by single-nucleotide polymorphisms","volume":"63","author":"Zhao","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB95","doi-asserted-by":"crossref","first-page":"1424","DOI":"10.1086\/301648","article-title":"Genomewide transmission\/disequilibrium testing \u2014 consideration of the genotype relative risks at disease loci","volume":"61","author":"Camp","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB96_1","first-page":"255","article-title":"Algorithms and inferences: the challenge of multifactorial diseases","volume":"60","author":"Elston","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB97_1","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1086\/301741","article-title":"Significance levels in complex inheritance","volume":"62","author":"Morton","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB98_1","first-page":"283","article-title":"Review of \u2018Statistical evidence: a likelihood paradigm\u2019 by Richard Royal","volume":"63","author":"Vieland","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB99","doi-asserted-by":"crossref","first-page":"1579","DOI":"10.1097\/00004872-199715120-00059","article-title":"The deletion\/insertion polymorphism of the angiotensin converting enzyme gene and cardiovascular-renal risk","volume":"15","author":"Staessen","year":"1997","journal-title":"J Hypertens"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB100","first-page":"1222","article-title":"Optimal strategies for mapping complex diseases in the presence of multiple loci","volume":"60","author":"Goldgar","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB101","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1126\/science.8211127","article-title":"A new five-year plan for the US Human Genome Project","volume":"262","author":"Collins","year":"1993","journal-title":"Science"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB102","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1126\/science.278.5343.1580","article-title":"Variations on a theme: cataloging human DNA sequence variation","volume":"278","author":"Collins","year":"1997","journal-title":"Science"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB103_1","first-page":"1439","article-title":"Haplotype analysis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes","volume":"60","author":"Ajioka","year":"1997","journal-title":"Am J Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB104_1","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1159\/000154418","article-title":"Mapping using linkage-disequilibrium estimates: a comparative study","volume":"47","author":"Allamand","year":"1997","journal-title":"Hum Hered"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB105","first-page":"21","article-title":"Most germ-line mutations in the nevoid basal cell carcinoma lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident","volume":"60","author":"Wicking","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB106","first-page":"63","article-title":"Identification of point mutations in 41 unrelated patients affected with Menkes disease","volume":"60","author":"Tumer","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB107","first-page":"540","article-title":"Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene","volume":"60","author":"Chamberlain","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB108","first-page":"352","article-title":"Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa","volume":"60","author":"Gatalica","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB109","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1086\/301681","article-title":"Cystic fibrosis transmembrane-conductance regulator mutations among African Americans","volume":"62","author":"Friedman","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB110","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1086\/301672","article-title":"A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer diseases","volume":"62","author":"Tysoe","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB111","first-page":"57","article-title":"Autosomal recessive Sorsby fundus dystrophy revisited: evidence for dominant inheritance","volume":"60","author":"Felbor","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB112","first-page":"330","article-title":"Mutations in the consensus helicase domains of the Warner's syndrome gene","volume":"60","author":"Yu","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB113","first-page":"342","article-title":"Identification of mutations in Cystatin B, the gene responsible for the Univerricht-Lundborg type of progressive myoclonus epilepsy (EPM1)","volume":"60","author":"Lailioti","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB114","first-page":"515","article-title":"The mutational spectrum in Treacher-Collins syndrome reveals a predominance of mutations that create a premature-termination codon","volume":"60","author":"Edwards","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB115","first-page":"547","article-title":"Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II","volume":"60","author":"De Paepe","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB116","first-page":"790","article-title":"Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets","volume":"60","author":"Holm","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB117","first-page":"1099","article-title":"Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease","volume":"60","author":"Akerman","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB118","first-page":"1128","article-title":"Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins","volume":"60","author":"Richard","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB119","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1086\/515455","article-title":"Molecular epidemiology and diagnosis of PBG deaminase see defects in acute intermittent porphyria","volume":"60","author":"Puy","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB120","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.1086\/515471","article-title":"Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome","volume":"60","author":"Lin","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB121","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1086\/515467","article-title":"Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach","volume":"60","author":"Peral","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB122","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1086\/513903","article-title":"The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2","volume":"61","author":"Berg","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB123","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1086\/513898","article-title":"Constitutively methylated CpG dinucleotides as mutation hot spots in the retinoblastoma gene (RB1)","volume":"60","author":"Mancini","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB124","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1086\/514846","article-title":"Spectrum of mutations in the Batten disease gene (CLN3)","volume":"61","author":"Munroe","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB125","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1086\/514864","article-title":"Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation and functional analyses","volume":"61","author":"Shah","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB126","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1086\/515505","article-title":"Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses","volume":"61","author":"Philippe","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB127","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1086\/515497","article-title":"A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)","volume":"61","author":"Veldhuisen","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB128","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1086\/301646","article-title":"Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa","volume":"61","author":"Buraczynska","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB129","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1086\/515495","article-title":"Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidemolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation","volume":"61","author":"Hovnanian","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB130","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1086\/514899","article-title":"Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins","volume":"61","author":"Adato","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB131","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1086\/514888","article-title":"Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene","volume":"61","author":"Sampson","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB132","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1086\/514875","article-title":"Identification of genetic mutations in Japanese patients with fructose-1,6-biphosphatase deficiency","volume":"61","author":"Kikawa","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB133","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1086\/301607","article-title":"The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases","volume":"61","author":"Tsou","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB134","doi-asserted-by":"crossref","first-page":"1202","DOI":"10.1086\/301612","article-title":"Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan","volume":"61","author":"Suzuki","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB135","doi-asserted-by":"crossref","first-page":"1246","DOI":"10.1086\/301632","article-title":"Mutations of the Fanconi anemia group A gene (FAA) in Italian patients","volume":"61","author":"Savino","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB136","doi-asserted-by":"crossref","first-page":"1254","DOI":"10.1086\/301639","article-title":"Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis","volume":"61","author":"Lynch","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB137","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1086\/301653","article-title":"Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis","volume":"6","author":"Aral","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB138","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1086\/301685","article-title":"NAGLU mutations underlying Sanfilippo syndrome type B","volume":"62","author":"Schmidtchen","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB139","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1086\/301686","article-title":"Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome","volume":"62","author":"Mallery","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB140","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1086\/301729","article-title":"Characterization of mutations for patients with multiple endocrine neoplasia type I","volume":"62","author":"Bassett","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB141","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1086\/301730","article-title":"HMG CoA Iyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q","volume":"62","author":"Mitchell","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB142","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1086\/301713","article-title":"Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum","volume":"62","author":"Briggs","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB143","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1086\/301725","article-title":"Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia","volume":"62","author":"Bejjani","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB144","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1086\/301746","article-title":"Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata","volume":"62","author":"Daniele","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB145","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1086\/301757","article-title":"Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity","volume":"62","author":"Oh","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB146","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1086\/301805","article-title":"Mutation and polymorphism analysis of the human homogentisate 1,2-dioxygenase gene in alkaptonuria patients","volume":"62","author":"Beltran-Valero de Bernabe","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB147","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1086\/301790","article-title":"Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenesis type VI (Hers disease)","volume":"62","author":"Burwinkel","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB148","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1086\/301807","article-title":"Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recesive (DFNB1) hearing loss","volume":"62","author":"Kelley","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB149","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1086\/301776","article-title":"OA1 mutations and deletions in X-linked ocular albinism","volume":"62","author":"Schnur","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB150","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1086\/301828","article-title":"Mutations in Blk inpatients with presumed X-linked agammaglobulinemia","volume":"62","author":"Conley","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB151","doi-asserted-by":"crossref","first-page":"1302","DOI":"10.1086\/301887","article-title":"Hyperphenylalaninemia with high levels of 7-bioprotein is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH)","volume":"62","author":"Thony","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB152","doi-asserted-by":"crossref","first-page":"1332","DOI":"10.1086\/301872","article-title":"Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal bartter syndrome","volume":"62","author":"Vargas-Poussou","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB153","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1086\/301870","article-title":"Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoetic protoporphyria","volume":"62","author":"Rufenacht","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB154","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1086\/301877","article-title":"Mutation analysis of UBE3A in Angelma syndrome patients","volume":"62","author":"Malzac","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB155","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.1086\/301875","article-title":"Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients","volume":"62","author":"Krantz","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0958-1669(98)80135-3_BIB156","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1086\/301855","article-title":"Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations","volume":"62","author":"Paznekas","year":"1998","journal-title":"Am J Hum Genet"}],"container-title":["Current Opinion in Biotechnology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0958166998801353?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0958166998801353?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T08:26:30Z","timestamp":1760689590000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0958166998801353"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,12]]},"references-count":156,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1998,12]]}},"alternative-id":["S0958166998801353"],"URL":"https:\/\/doi.org\/10.1016\/s0958-1669(98)80135-3","relation":{},"ISSN":["0958-1669"],"issn-type":[{"value":"0958-1669","type":"print"}],"subject":[],"published":{"date-parts":[[1998,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Linkage disequilibrium mapping of complex disease: fantasy or reality?","name":"articletitle","label":"Article Title"},{"value":"Current Opinion in Biotechnology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/S0958-1669(98)80135-3","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"converted-article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 1998 Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}]}}