{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T09:45:57Z","timestamp":1791279957911,"version":"4.1.0"},"reference-count":55,"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":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":5344,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[1998,12]]},"DOI":"10.1086\/302160","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:47:41Z","timestamp":1027709261000},"page":"1712-1723","source":"Crossref","is-referenced-by-count":161,"title":["Intragenic telSMN Mutations: Frequency, Distribution, Evidence of a Founder Effect, and Modification of the Spinal Muscular Atrophy Phenotype by cenSMN Copy Number"],"prefix":"10.1016","volume":"63","author":[{"given":"D.W.","family":"Parsons","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.E.","family":"McAndrew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.T.","family":"Iannaccone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.R.","family":"Mendell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.H.M.","family":"Burghes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.W.","family":"Prior","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/302160_bib2","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1093\/hmg\/5.12.1971","article-title":"Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I","volume":"5","author":"Brahe","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302160_bib1","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1007\/BF00202811","article-title":"Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis","volume":"93","author":"Brahe","year":"1994","journal-title":"Hum Genet"},{"key":"10.1086\/302160_bib3","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1038\/344540a0","article-title":"Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3","volume":"344","author":"Brzustowicz","year":"1990","journal-title":"Nature"},{"key":"10.1086\/302160_bib6","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1086\/513913","article-title":"When is a deletion not a deletion?. When it is converted","volume":"61","author":"Burghes","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302160_bib4","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1007\/BF00212028","article-title":"Linkage mapping of the spinal muscular atrophy gene","volume":"93","author":"Burghes","year":"1994","journal-title":"Hum Genet"},{"key":"10.1086\/302160_bib8","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1006\/geno.1996.0147","article-title":"Structure and organization of the human survival motor neuron (SMN) gene","volume":"32","author":"B\u00fcrglen","year":"1996","journal-title":"Genomics"},{"key":"10.1086\/302160_bib7","unstructured":"B\u00fcrglen L, Patel S, Dubowitz V, Melki J, Muntoni F (1996b) A novel point mutation in the SMN gene in a patient with type III spinal muscular atrophy. Paper presented at the First Congress of the World Muscle Society. London, September 25-27"},{"key":"10.1086\/302160_bib100","first-page":"72","article-title":"The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease","volume":"60","author":"B\u00fcrglen","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302160_bib9","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/ng1195-335","article-title":"A frameshift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients","volume":"11","author":"Bussaglia","year":"1995","journal-title":"Nat Genet"},{"key":"10.1086\/302160_bib10","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":"10.1086\/302160_bib11","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1006\/geno.1994.1626","article-title":"A YAC contig of the region containing the spinal muscular atrophy gene (SMA): identification of an unstable region","volume":"24","author":"Carpten","year":"1994","journal-title":"Genomics"},{"key":"10.1086\/302160_bib12","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1093\/hmg\/6.2.229","article-title":"A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions","volume":"6","author":"Carter","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302160_bib13","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1038\/351586a0","article-title":"Large differences in the helix propensities of alanine and glycine","volume":"351","author":"Chakrabartty","year":"1991","journal-title":"Nature"},{"key":"10.1086\/302160_bib14","first-page":"805","article-title":"Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy","volume":"57","author":"Cobben","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302160_bib15","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1093\/hmg\/6.8.1205","article-title":"The survival motor neuron protein in spinal muscular atrophy","volume":"6","author":"Coovert","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302160_bib16","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/0888-7543(92)90382-3","article-title":"Linkage analysis of spinal muscular atrophy","volume":"12","author":"Daniels","year":"1992","journal-title":"Genomics"},{"key":"10.1086\/302160_bib18","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1002\/ana.410410214","article-title":"Deletions and conversion in spinal muscular atrophy patients: is there a relationship to severity?","volume":"41","author":"DiDonato","year":"1997","journal-title":"Ann Neurol"},{"key":"10.1086\/302160_bib17","first-page":"1218","article-title":"Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy","volume":"55","author":"DiDonato","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302160_bib19","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1016\/S0092-8674(00)80368-2","article-title":"The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis","volume":"90","author":"Fischer","year":"1997","journal-title":"Cell"},{"key":"10.1086\/302160_bib20","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1093\/hmg\/2.8.1161","article-title":"A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13","volume":"2","author":"Francis","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302160_bib21","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1006\/bbrc.1995.2135","article-title":"Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients","volume":"213","author":"Gennarelli","year":"1995","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1086\/302160_bib22","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1093\/hmg\/4.10.1927","article-title":"Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence for homozygous deletions of the SMN gene in unaffected individuals","volume":"4","author":"Hahnen","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302160_bib24","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1093\/hmg\/6.5.821","article-title":"Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA)","volume":"6","author":"Hahnen","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302160_bib23","first-page":"1057","article-title":"Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease","volume":"59","author":"Hahnen","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302160_bib25","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1073\/pnas.80.2.477","article-title":"Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase","volume":"80","author":"Jolly","year":"1983","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/302160_bib26","doi-asserted-by":"crossref","first-page":"6801","DOI":"10.1073\/pnas.90.14.6801","article-title":"Construction of a yeast artifical chromosome contig spanning the spinal muscular atrophy disease gene region","volume":"90","author":"Kleyn","year":"1993","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/302160_bib27","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"10.1086\/302160_bib28","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/ng0797-265","article-title":"Correlation between severity and SMN protein level in spinal muscular atrophy","volume":"16","author":"Lefebvre","year":"1997","journal-title":"Nat Genet"},{"key":"10.1086\/302160_bib29","doi-asserted-by":"crossref","first-page":"3555","DOI":"10.1002\/j.1460-2075.1996.tb00725.x","article-title":"A novel nuclear structure containing the survival of motor neurons protein","volume":"15","author":"Liu","year":"1996","journal-title":"EMBO J"},{"key":"10.1086\/302160_bib30","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1016\/S0092-8674(00)80367-0","article-title":"The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins","volume":"90","author":"Liu","year":"1997","journal-title":"Cell"},{"key":"10.1086\/302160_bib31","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1093\/hmg\/7.8.1269","article-title":"The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding","volume":"7","author":"Lorson","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302160_bib32","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1038\/ng0598-63","article-title":"SMN oligomerization defect correlates with spinal muscular atrophy severity","volume":"19","author":"Lorson","year":"1998","journal-title":"Nat Genet"},{"key":"10.1086\/302160_bib33","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1126\/science.2237416","article-title":"Side chain contributions to the stability of alpha-helical structure in peptides","volume":"250","author":"Lyu","year":"1990","journal-title":"Science"},{"key":"10.1086\/302160_bib34","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1007\/BF00217448","article-title":"Genetic linkage analysis of Canadian spinal muscular atrophy kindreds using flanking microsatellite 5q13.3 polymorphisms","volume":"90","author":"MacKenzie","year":"1993","journal-title":"Hum Genet"},{"key":"10.1086\/302160_bib101","doi-asserted-by":"crossref","first-page":"R93","DOI":"10.1016\/S0960-9822(98)70055-7","article-title":"Ribonucleoprotein assembly: clues from spinal muscular atrophy","volume":"8","author":"Mattaj","year":"1998","journal-title":"Curr Biol"},{"key":"10.1086\/302160_bib35","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1086\/515465","article-title":"Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number","volume":"60","author":"McAndrew","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302160_bib36","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1038\/344767a0","article-title":"Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q","volume":"344","author":"Melki","year":"1990","journal-title":"Nature"},{"key":"10.1086\/302160_bib37","doi-asserted-by":"crossref","first-page":"1474","DOI":"10.1126\/science.7910982","article-title":"De novo and inherited deletions of the 5q13 region in spinal muscular atrophies","volume":"264","author":"Melki","year":"1994","journal-title":"Science"},{"key":"10.1086\/302160_bib38","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1988","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/302160_bib40","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S0960-8966(06)80015-5","article-title":"Meeting report: International SMA Consortium meeting","volume":"2","author":"Munsat","year":"1992","journal-title":"Neuromuscul Disord"},{"key":"10.1086\/302160_bib42","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1136\/jmg.35.8.674","article-title":"Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis","volume":"35","author":"Parsons","year":"1998","journal-title":"J Med Genet"},{"key":"10.1086\/302160_bib41","doi-asserted-by":"crossref","first-page":"1727","DOI":"10.1093\/hmg\/5.11.1727","article-title":"An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene","volume":"5","author":"Parsons","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302160_bib43","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1016\/S0140-6736(80)90847-8","article-title":"Classification of spinal muscular atrophies","volume":"1","author":"Pearn","year":"1980","journal-title":"Lancet"},{"key":"10.1086\/302160_bib45","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1007\/s100480050021","article-title":"Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7","volume":"1","author":"Rochette","year":"1997","journal-title":"Neurogenetics"},{"key":"10.1086\/302160_bib46","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1093\/hmg\/4.4.631","article-title":"Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy","volume":"4","author":"Rodrigues","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302160_bib47","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/0092-8674(95)90461-1","article-title":"The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy","volume":"80","author":"Roy","year":"1995","journal-title":"Cell"},{"key":"10.1086\/302160_bib49","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1002\/(SICI)1096-8628(19971003)72:1<51::AID-AJMG11>3.0.CO;2-T","article-title":"SMNT and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype\/phenotype correlations with disease severity","volume":"72","author":"Simard","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1086\/302160_bib48","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/S0888-7543(05)80305-2","article-title":"Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families","volume":"14","author":"Simard","year":"1992","journal-title":"Genomics"},{"key":"10.1086\/302160_bib51","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1093\/hmg\/6.3.497","article-title":"Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?","volume":"6","author":"Talbot","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302160_bib52","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/ng0195-56","article-title":"A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients","volume":"9","author":"Thompson","year":"1995","journal-title":"Nat Genet"},{"key":"10.1086\/302160_bib54","first-page":"834","article-title":"Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5","volume":"59","author":"van der Steege","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302160_bib53","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1016\/S0140-6736(95)90732-7","article-title":"PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy","volume":"345","author":"van der Steege","year":"1995","journal-title":"Lancet"},{"key":"10.1086\/302160_bib55","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1093\/hmg\/5.2.257","article-title":"Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype","volume":"5","author":"Velasco","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302160_bib58","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1159\/000472274","article-title":"Mapping of the spinal muscular atrophy (SMA) gene to a 750 kb interval flanked by two microsatellites","volume":"3","author":"Wirth","year":"1995","journal-title":"Eur J Hum Genet"},{"key":"10.1086\/302160_bib57","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1006\/geno.1994.1130","article-title":"Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3","volume":"20","author":"Wirth","year":"1994","journal-title":"Genomics"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707616164?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707616164?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,3,4]],"date-time":"2020-03-04T04:38:03Z","timestamp":1583296683000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707616164"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,12]]},"references-count":55,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1998,12]]}},"alternative-id":["S0002929707616164"],"URL":"https:\/\/doi.org\/10.1086\/302160","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[1998,12]]}}}