{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T18:04:33Z","timestamp":1790964273131,"version":"4.1.0"},"reference-count":69,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2004,3,10]],"date-time":"2004-03-10T00:00:00Z","timestamp":1078876800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2004,7]]},"DOI":"10.1038\/sj.ejhg.5201151","type":"journal-article","created":{"date-parts":[[2004,3,10]],"date-time":"2004-03-10T10:16:12Z","timestamp":1078913772000},"page":"591-600","source":"Crossref","is-referenced-by-count":59,"title":["Founder mutations among the Dutch"],"prefix":"10.1038","volume":"12","author":[{"given":"Maurice PA","family":"Zeegers","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frans","family":"van Poppel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Vlietinck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liesbeth","family":"Spruijt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry","family":"Ostrer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2004,3,10]]},"reference":[{"key":"BF5201151_CR1","doi-asserted-by":"publisher","first-page":"12416","DOI":"10.1073\/pnas.95.21.12416","volume":"95","author":"A de la Chapelle","year":"1998","unstructured":"de la Chapelle A, Wright FA : Linkage disequilibrium mapping in isolated populations: the example of Finland revisited. Proc Natl Acad Sci USA 1998; 95: 12416\u201312423.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201151_CR2","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1126\/science.110.2865.543","volume":"110","author":"L Pauling","year":"1949","unstructured":"Pauling L, Itano HA, Singer SJ, Wells IC : Sickle cell anemia: a molecular disease. Science 1949; 110: 543.","journal-title":"Science"},{"key":"BF5201151_CR3","doi-asserted-by":"publisher","first-page":"598","DOI":"10.1086\/318810","volume":"68","author":"SA Slaugenhaupt","year":"2001","unstructured":"Slaugenhaupt SA, Blumenfeld A, Gill SP et al: Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet 2001; 68: 598\u2013605.","journal-title":"Am J Hum Genet"},{"key":"BF5201151_CR4","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1002\/ajmg.1320490104","volume":"49","author":"J Zlotogora","year":"1994","unstructured":"Zlotogora J : High frequencies of human genetic diseases: founder effect with genetic drift or selection? Am J Med Genet 1994; 49: 10\u201313.","journal-title":"Am J Med Genet"},{"key":"BF5201151_CR5","first-page":"1250","volume":"57","author":"D Kronn","year":"1995","unstructured":"Kronn D, Oddoux C, Phillips JH : Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population. Am J Hum Genet 1995; 57: 1250\u20131252.","journal-title":"Am J Hum Genet"},{"key":"BF5201151_CR6","doi-asserted-by":"publisher","first-page":"2961","DOI":"10.1093\/hmg\/10.26.2961","volume":"10","author":"T Pastinen","year":"2001","unstructured":"Pastinen T, Perola M, Ignatius J et al: Dissecting a population genome for targeted screening of disease mutations. Hum Mol Genet 2001; 10: 2961\u20132972.","journal-title":"Hum Mol Genet"},{"key":"BF5201151_CR7","doi-asserted-by":"publisher","first-page":"1401","DOI":"10.1056\/NEJM199705153362001","volume":"336","author":"JP Struewing","year":"1997","unstructured":"Struewing JP, Hartge P, Wacholder S et al: The risk of cancer associated with specific mutations of BRCA1 BRCA2 among Ashkenazi Jews. New Engl J Med 1997; 336: 1401\u20131408.","journal-title":"New Engl J Med"},{"key":"BF5201151_CR8","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1038\/ng1096-188","volume":"14","author":"C Oddoux","year":"1996","unstructured":"Oddoux C, Struewing JP, Clayton CM et al: The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nat Genet 1996; 14: 188\u2013190.","journal-title":"Nat Genet"},{"key":"BF5201151_CR9","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1038\/35075590","volume":"411","author":"DE Reich","year":"2001","unstructured":"Reich DE, Cargill M, Bolk S et al: Linkage disequilibrium in the human genome. Nature 2001; 411: 199\u2013204.","journal-title":"Nature"},{"key":"BF5201151_CR10","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1038\/ng1192-204","volume":"2","author":"J Hastbacka","year":"1992","unstructured":"Hastbacka J, de la Chapelle A, Kaitila I, Sistonen P, Weaver A, Lander E : Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland (published erratum appears in Nat. Genet. 2(4):343, 1992). Nat Genet 1992; 2: 204\u2013211.","journal-title":"Nat Genet"},{"key":"BF5201151_CR11","doi-asserted-by":"publisher","first-page":"1516","DOI":"10.1126\/science.273.5281.1516","volume":"273","author":"N Risch","year":"1996","unstructured":"Risch N, Merikangas K : The future of genetic studies of complex human diseases. Science 1996; 273: 1516\u20131517.","journal-title":"Science"},{"key":"BF5201151_CR12","doi-asserted-by":"publisher","first-page":"891","DOI":"10.1038\/35098506","volume":"2","author":"H Ostrer","year":"2001","unstructured":"Ostrer H : A genetic profile of contemporary Jewish populations. Nat Rev Genet 2001; 2: 891\u2013898.","journal-title":"Nat Rev Genet"},{"key":"BF5201151_CR13","doi-asserted-by":"publisher","first-page":"1913","DOI":"10.1093\/hmg\/8.10.1913","volume":"8","author":"L Peltonen","year":"1999","unstructured":"Peltonen L, Jalanko AT : Molecular genetics of the Finnish disease heritage. Hum Mol Genet 1999; 8: 1913\u20131923.","journal-title":"Hum Mol Genet"},{"key":"BF5201151_CR14","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1002\/humu.10192","volume":"21","author":"J Zschocke","year":"2003","unstructured":"Zschocke J : Phenylketonuria mutations in Europe. Hum Mutat 2003; 21: 345\u2013356.","journal-title":"Hum Mutat"},{"key":"BF5201151_CR15","unstructured":"Cunliffe B : The Oxford Illustrated Prehistory of Europe, New York: Oxford University Press; 1994."},{"key":"BF5201151_CR16","doi-asserted-by":"publisher","first-page":"844","DOI":"10.1086\/323485","volume":"69","author":"A Torroni","year":"2001","unstructured":"Torroni A, Bandelt HJ, Macaulay V et al: A signal from human mtDNA of postglacial recolonization in Europe. Am J Hum Genet 2001; 69: 844\u2013852.","journal-title":"Am J Hum Genet"},{"key":"BF5201151_CR17","doi-asserted-by":"publisher","first-page":"1155","DOI":"10.1126\/science.290.5494.1155","volume":"290","author":"O Semino","year":"2000","unstructured":"Semino O, Passarino G, Oefner PJ et al: The genetic legacy of paleolithic Homo sapiens in extant Europeans: a Y chromosome perspective. Science 2000; 290: 1155\u20131159.","journal-title":"Science"},{"key":"BF5201151_CR18","doi-asserted-by":"publisher","first-page":"1526","DOI":"10.1086\/316890","volume":"67","author":"ZH Rosser","year":"2000","unstructured":"Rosser ZH, Zerjal T, Hurles ME et al: Y-chromosomal diversity in Europe is clinal influenced primarily by geography rather than by language. Am J Hum Genet 2000; 67: 1526\u20131543.","journal-title":"Am J Hum Genet"},{"key":"BF5201151_CR19","volume-title":"Archeology Language: The Puzzle of Indo-European Origins","author":"C Renfrew","year":"1987","unstructured":"Renfrew C : Archeology Language: The Puzzle of Indo-European Origins. London: Jonathan Cape; 1987."},{"key":"BF5201151_CR20","volume-title":"A Short History of the Netherlands: From Prehistory to Present Day","author":"PJAN Rietbergen","year":"1992","unstructured":"Rietbergen PJAN, Seegers GHJ : A Short History of the Netherlands: From Prehistory to Present Day. Amersfoort: Bekking Publishers; 1992."},{"key":"BF5201151_CR21","volume-title":"Algemene geschiedenis der Nederlanden","author":"AM Van der Woude","year":"1980","unstructured":"Van der Woude AM : Demografische ontwikkeling van de noordelijke nederlanden 1500\u20131800. in Algemene geschiedenis der Nederlanden. Haarlem: Fibula; 1980."},{"key":"BF5201151_CR22","volume-title":"Long Distance Migrations (1500\u20131900)","author":"J Lucassen","year":"1990","unstructured":"Lucassen J : \u2018Dutch migration 1600\u20131900\u2019. in Eiras A (ed): Long Distance Migrations (1500\u20131900). Madrid: Commission Internationale de D\u00e9mographie Historique; 1990."},{"key":"BF5201151_CR23","volume-title":"The Dutch in America. Immigration, Settlement and Cultural Change","author":"PRD Stokvis","year":"1985","unstructured":"Stokvis PRD : Dutch international migration 1815\u20131910. in Swierenga RP(ed) The Dutch in America. Immigration, Settlement and Cultural Change. New Brunswick: Rutgers University Press; 1985."},{"key":"BF5201151_CR24","volume-title":"De eenwording van Nederland","author":"H Knippenberg","year":"1988","unstructured":"Knippenberg H, dePater B : De eenwording van Nederland. Nijmegen: SUN; 1988."},{"key":"BF5201151_CR25","first-page":"79","volume":"34","author":"F van Poppel","year":"1994","unstructured":"van Poppel F : Verbreding van de horizon? veranderingen in geografische herkomst van huwelijkspartners. Acta Geograph Lovaniensia 1994; 34: 79\u201388.","journal-title":"Acta Geograph Lovaniensia"},{"key":"BF5201151_CR26","first-page":"131","volume-title":"\u2018Vrijt daar je zijt\u2019; Huwelijk en partnerkeuze in Zeeland tussen 1830 en 1950","author":"J Kok","year":"1998","unstructured":"Kok J : \u2018Vrijt daar je zijt\u2019; Huwelijk en partnerkeuze in Zeeland tussen 1830 en 1950. Zeeland; 1998; 7: 131\u2013143."},{"key":"BF5201151_CR27","volume-title":"De religieuze kaart van Nederland: omvang en geografisch spreiding van de godsdienstige gezindten vanaf de reformatie tot heden","author":"H Knippenberg","year":"1992","unstructured":"Knippenberg H : De religieuze kaart van Nederland: omvang en geografisch spreiding van de godsdienstige gezindten vanaf de reformatie tot heden. Assen: Van Gorcum; 1992."},{"key":"BF5201151_CR28","first-page":"231","volume":"23","author":"E Beekink","year":"1998","unstructured":"Beekink E, Liefbroer A, Poppel F : Changes in choice of spouse as an indicator of a society in a state of transition: Woerden 1830\u20131930. Historical Social Res 1998; 23: 231\u2013253.","journal-title":"Historical Social Res"},{"key":"BF5201151_CR29","volume-title":"Geografische en confessionele invloeden bij de huwelijkskeuze in Nederland","author":"A Polman","year":"1951","unstructured":"Polman A : Geografische en confessionele invloeden bij de huwelijkskeuze in Nederland. Leiden: Stenfert kroese; 1951."},{"key":"BF5201151_CR30","volume-title":"The Analysis of Religious Assortative Marriage. An Application of Design Techniques for Categorical Models","author":"J Hendrickx","year":"1994","unstructured":"Hendrickx J : The Analysis of Religious Assortative Marriage. An Application of Design Techniques for Categorical Models. Amsterdam: Thesis Publishers; 1994."},{"key":"BF5201151_CR31","first-page":"13","volume":"18","author":"F Van Poppel","year":"2002","unstructured":"Van Poppel F, Mandemakers K, Vaders op leeftijd : Vergelijking met de 19e eeuw. Demos 2002; 18: 13\u201316.","journal-title":"Demos"},{"key":"BF5201151_CR32","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1038\/ng0398-219","volume":"18","author":"LN Bull","year":"1998","unstructured":"Bull LN, van Eijk MJ, Pawlikowska L et al: A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 1998; 18: 219\u2013224.","journal-title":"Nat Genet"},{"key":"BF5201151_CR33","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1038\/ng1294-380","volume":"8","author":"RH Houwen","year":"1994","unstructured":"Houwen RH, Baharloo S, Blankenship K et al: Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nat Genet 1994; 8: 380\u2013386.","journal-title":"Nat Genet"},{"key":"BF5201151_CR34","doi-asserted-by":"publisher","first-page":"856","DOI":"10.2337\/diabetes.51.3.856","volume":"51","author":"N Vaessen","year":"2002","unstructured":"Vaessen N, Heutink P, Houwing-Duistermaat JJ et al: A genome-wide search for linkage-disequilibrium with type 1 diabetes in a recent genetically isolated population from the netherlands. Diabetes 2002; 51: 856\u2013859.","journal-title":"Diabetes"},{"key":"BF5201151_CR35","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1006\/mgme.1999.2810","volume":"66","author":"PE Taschner","year":"1999","unstructured":"Taschner PE, Franken PF, van Berkel L, Breuning MH : Genetic heterogeneity of neuronal ceroid lipofuscinosis in the Netherlands. Mol Genet Metab 1999; 66: 339\u2013343.","journal-title":"Mol Genet Metab"},{"key":"BF5201151_CR36","doi-asserted-by":"publisher","first-page":"644","DOI":"10.1007\/s004390050756","volume":"102","author":"LP van den Heuvel","year":"1998","unstructured":"van den Heuvel LP, Luiten B, Smeitink JA et al: A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the dutch population. Hum Genet 1998; 102: 644\u2013646.","journal-title":"Hum Genet"},{"key":"BF5201151_CR37","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1038\/ng0394-287","volume":"6","author":"P Heutink","year":"1994","unstructured":"Heutink P, Zguricas J, van Oosterhout L et al: The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q. Nat Genet 1994; 6: 287\u2013292.","journal-title":"Nat Genet"},{"key":"BF5201151_CR38","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1002\/gcc.1144","volume":"31","author":"PE Taschner","year":"2001","unstructured":"Taschner PE, Jansen JC, Baysal BE et al: Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. Genes Chromosomes Cancer 2001; 31: 274\u2013281.","journal-title":"Genes Chromosomes Cancer"},{"key":"BF5201151_CR39","doi-asserted-by":"publisher","first-page":"468","DOI":"10.1086\/301951","volume":"63","author":"EM van Schothorst","year":"1998","unstructured":"van Schothorst EM, Jansen JC, Grooters E et al: Founder effect at PGL1 in hereditary head neck paraganglioma families from the Netherlands. Am J Hum Genet 1998; 63: 468\u2013473.","journal-title":"Am J Hum Genet"},{"key":"BF5201151_CR40","first-page":"1041","volume":"60","author":"T Peelen","year":"1997","unstructured":"Peelen T, van Vliet M, Petrij-Bosch A et al: A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch Belgian hereditary breast ovarian cancer families. Am J Hum Genet 1997; 60: 1041\u20131049.","journal-title":"Am J Hum Genet"},{"key":"BF5201151_CR41","doi-asserted-by":"publisher","first-page":"2082","DOI":"10.1016\/S0959-8049(01)00244-1","volume":"37","author":"LC Verhoog","year":"2001","unstructured":"Verhoog LC, van den Ouweland AM, Berns E et al: Large regional differences in the frequency of distinct BRCA1\/BRCA2 mutations in 517 Dutch breast and\/or ovarian cancer families. Eur J Cancer 2001; 37: 2082\u20132090.","journal-title":"Eur J Cancer"},{"key":"BF5201151_CR42","doi-asserted-by":"publisher","first-page":"341","DOI":"10.1038\/ng1197-341","volume":"17","author":"A Petrij-Bosch","year":"1997","unstructured":"Petrij-Bosch A, Peelen T, van Vliet M et al: BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 1997; 17: 341\u2013345.","journal-title":"Nat Genet"},{"key":"BF5201151_CR43","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1007\/s00439-001-0628-8","volume":"109","author":"SW Fouchier","year":"2001","unstructured":"Fouchier SW, Defesche JC, Umans-Eckenhausen MW, Kastelein JP : The molecular basis of familial hypercholesterolemia in the Netherlands. Hum Genet 2001; 109: 602\u2013615.","journal-title":"Hum Genet"},{"key":"BF5201151_CR44","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/0021-9150(90)90158-F","volume":"83","author":"B Top","year":"1990","unstructured":"Top B, Koeleman BP, Gevers Leuven JA, Havekes LM, Frants RR : Rearrangements in the LDL receptor gene in Dutch familial hypercholesterolemic patients the presence of a common 4\u2009kb deletion. Atherosclerosis 1990; 83: 127\u2013136.","journal-title":"Atherosclerosis"},{"key":"BF5201151_CR45","doi-asserted-by":"publisher","first-page":"414","DOI":"10.1086\/302256","volume":"64","author":"P Rizzu","year":"1999","unstructured":"Rizzu P, Van Swieten JC, Joosse M et al: High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am J Hum Genet 1999; 64: 414\u2013421.","journal-title":"Am J Hum Genet"},{"key":"BF5201151_CR46","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1002\/ajmg.1320570246","volume":"57","author":"JG Taschner","year":"1995","unstructured":"Taschner JG, de Vos N, Post JG et al: Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis). Am J Med Genet 1995; 57: 333\u2013337.","journal-title":"Am J Med Genet"},{"key":"BF5201151_CR47","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1038\/ng0795-351","volume":"10","author":"NA Gruis","year":"1995","unstructured":"Gruis NA, van der Velden PA, Sandkuijl LA et al: Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. Nat Genet 1995; 10: 351\u2013353.","journal-title":"Nat Genet"},{"key":"BF5201151_CR48","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1182\/blood.V78.4.890.890","volume":"78","author":"PH Reitsma","year":"1991","unstructured":"Reitsma PH, Poort SR, Allaart CF, Briet E, Bertina RM : The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity founder effects. Blood 1991; 78: 890\u2013894.","journal-title":"Blood"},{"key":"BF5201151_CR49","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1023\/A:1005362826552","volume":"21","author":"B Weber","year":"1998","unstructured":"Weber B, van de Kamp JJ, Kleijer WJ et al: Identification of a common mutation (R245H) in sanfilippo a patients from the netherlands. J Inherit Metab Dis 1998; 21: 416\u2013422.","journal-title":"J Inherit Metab Dis"},{"key":"BF5201151_CR50","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1007\/s004399900075","volume":"105","author":"BJ Poorthuis","year":"1999","unstructured":"Poorthuis BJ, Wevers RA, Kleijer WJ et al: The frequency of lysosomal storage diseases in the Netherlands. Hum Genet 1999; 105: 151\u2013156.","journal-title":"Hum Genet"},{"key":"BF5201151_CR51","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1007\/BF00222712","volume":"91","author":"XF Gu","year":"1993","unstructured":"Gu XF, de Rooij F, Lee JS et al: High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria. Hum Genet 1993; 91: 128\u2013130.","journal-title":"Hum Genet"},{"key":"BF5201151_CR52","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1038\/sj.ejhg.5200470","volume":"8","author":"E Schollen","year":"2000","unstructured":"Schollen E, Kjaergaard S, Legius E, Schwartz M, Matthijs G : Lack of Hardy\u2013Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). Eur J Hum Genet 2000; 8: 367\u2013371.","journal-title":"Eur J Hum Genet"},{"key":"BF5201151_CR53","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1007\/s004390050745","volume":"102","author":"JM Collee","year":"1998","unstructured":"Collee JM, de Vries HG, Scheffer H, Halley DJ, ten Kate LP : Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of significant regional variation in a small country. Hum Genet 1998; 102: 587\u2013590.","journal-title":"Hum Genet"},{"key":"BF5201151_CR54","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1007\/s004390050496","volume":"100","author":"H Scheffer","year":"1997","unstructured":"Scheffer H, Stulp RP, Verlind E et al: Implications of intragenic marker homozygosity haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa. Hum Genet 1997; 100: 230\u2013235.","journal-title":"Hum Genet"},{"key":"BF5201151_CR55","doi-asserted-by":"publisher","first-page":"836","DOI":"10.1136\/jmg.32.10.836-a","volume":"32","author":"MA Kroos","year":"1995","unstructured":"Kroos MA, Van der Kraan M, Van Diggelen OP et al: Glycogen storage disease type II: frequency of three common mutant alleles their associated clinical phenotypes studied in 121 patients. J Med Genet 1995; 32: 836\u2013837.","journal-title":"J Med Genet"},{"key":"BF5201151_CR56","doi-asserted-by":"publisher","first-page":"713","DOI":"10.1038\/sj.ejhg.5200367","volume":"7","author":"MG Ausems","year":"1999","unstructured":"Ausems MG, Verbiest J, Hermans MP et al: Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis genetic counseling. Eur J Hum Genet 1999; 7: 713\u2013716.","journal-title":"Eur J Hum Genet"},{"key":"BF5201151_CR57","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1136\/jmg.38.8.527","volume":"38","author":"MG Ausems","year":"2001","unstructured":"Ausems MG, ten Berg K, Sandkuijl LA et al: Dutch patients with glycogen storage disease type II show common ancestry for the 525delT del exon 18 mutations. J Med Genet 2001; 38: 527\u2013529.","journal-title":"J Med Genet"},{"key":"BF5201151_CR58","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1023\/A:1005315311165","volume":"20","author":"WJ Kleijer","year":"1997","unstructured":"Kleijer WJ, Keulemans JL, van der Kraan M et al: Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin. J Inherit Metab Dis 1997; 20: 587\u2013594.","journal-title":"J Inherit Metab Dis"},{"key":"BF5201151_CR59","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1159\/000154157","volume":"43","author":"N Gregersen","year":"1993","unstructured":"Gregersen N, Winter V, Curtis D et al: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from Northwestern Europe. Hum Hered 1993; 43: 342\u2013350.","journal-title":"Hum Hered"},{"key":"BF5201151_CR60","doi-asserted-by":"publisher","first-page":"1024","DOI":"10.1086\/302323","volume":"64","author":"A Maugeri","year":"1999","unstructured":"Maugeri A, van Driel MA, van de Pol DJ et al: The 2588G\u2013&gt;C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet 1999; 64: 1024\u20131035.","journal-title":"Am J Hum Genet"},{"key":"BF5201151_CR61","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1007\/BF00244471","volume":"92","author":"S Buyle","year":"1993","unstructured":"Buyle S, Reyniers E, Vits L et al: Founder effect in a Belgian\u2013Dutch fragile X population. Hum Genet 1993; 92: 269\u2013272.","journal-title":"Hum Genet"},{"key":"BF5201151_CR62","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1034\/j.1399-0004.2001.590106.x","volume":"59","author":"A Goldman","year":"2001","unstructured":"Goldman A, Labrum R, Claustres M et al: The molecular basis of cystic fibrosis in South Africa. Clin Genet 2001; 59: 37\u201341.","journal-title":"Clin Genet"},{"key":"BF5201151_CR63","doi-asserted-by":"publisher","first-page":"5734","DOI":"10.1073\/pnas.091402398","volume":"98","author":"AJ Tipping","year":"2001","unstructured":"Tipping AJ, Pearson T, Morgan NV et al: Molecular genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa. Proc Natl Acad Sci USA 2001; 98: 5734\u20135739.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201151_CR64","doi-asserted-by":"publisher","first-page":"1308","DOI":"10.1086\/302623","volume":"65","author":"JC Moolman-Smook","year":"1999","unstructured":"Moolman-Smook JC, De Lange WJ, Bruwer EC, Brink PA, Corfield VA : The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent founder events. Am J Hum Genet 1999; 65: 1308\u20131320.","journal-title":"Am J Hum Genet"},{"key":"BF5201151_CR65","doi-asserted-by":"publisher","first-page":"951","DOI":"10.1136\/jmg.37.12.951","volume":"37","author":"J Moolman-Smook","year":"2000","unstructured":"Moolman-Smook J, De Lange W, Corfield V, Brink P : Expression of HCM causing mutations: lessons learnt from genotype\u2013phenotype studies of the South African founder MYH7 A797T mutation. J Med Genet 2000; 37: 951\u2013956.","journal-title":"J Med Genet"},{"key":"BF5201151_CR66","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1038\/ng0596-95","volume":"13","author":"PN Meissner","year":"1996","unstructured":"Meissner PN, Dailey TA, Hift RJ et al: A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity is prevalent in South Africans with variegate porphyria. Nat Genet 1996; 13: 95\u201397.","journal-title":"Nat Genet"},{"key":"BF5201151_CR67","doi-asserted-by":"publisher","first-page":"981","DOI":"10.1093\/hmg\/5.7.981","volume":"5","author":"L Warnich","year":"1996","unstructured":"Warnich L, Kotze MJ, Groenewald IM et al: Identification of three mutations associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria. Hum Mol Genet 1996; 5: 981\u2013984.","journal-title":"Hum Mol Genet"},{"key":"BF5201151_CR68","doi-asserted-by":"publisher","first-page":"1460","DOI":"10.1086\/375537","volume":"72","author":"N Howell","year":"2003","unstructured":"Howell N, Oostra R, Bolhuis P et al: Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 2003; 72: 1460\u20131469.","journal-title":"Am J Hum Genet"},{"key":"BF5201151_CR69","volume-title":"The Porphyrias: A story of inheritance and environment","author":"G Dean","year":"1963","unstructured":"Dean G : The Porphyrias: A story of inheritance and environment. Philadelphia: J.B. Lippincott; 1963."}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201151.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201151","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201151.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:30:55Z","timestamp":1684373455000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201151"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,3,10]]},"references-count":69,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2004,7]]}},"alternative-id":["BF5201151"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201151","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,3,10]]}}}