M G Ramirez-Dueñas, E A Rogaeva, C A Leal, C Lin, G A Ramirez-Casillas, J A Hernandez-Romo, P H St George-Hyslop, J M Cantu
{"title":"A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease.","authors":"M G Ramirez-Dueñas, E A Rogaeva, C A Leal, C Lin, G A Ramirez-Casillas, J A Hernandez-Romo, P H St George-Hyslop, J M Cantu","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>A search for mutations in exons 6, 7, 9 and 12 of the PS1 gene in four Mexican families with Early-Onset (36-40 years) Alzheimer Disease yielded the discovery in one family of a T-->C mismatch in exon 7 which correspond to nucleotide 760 of cDNA, leading to a Leu171Pro mutation. The pedigree analysis and the literature data strongly suggest an etiopathogenic relationship of the mutation with the disorder.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 3","pages":"149-53"},"PeriodicalIF":0.0000,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annales de genetique","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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Abstract
A search for mutations in exons 6, 7, 9 and 12 of the PS1 gene in four Mexican families with Early-Onset (36-40 years) Alzheimer Disease yielded the discovery in one family of a T-->C mismatch in exon 7 which correspond to nucleotide 760 of cDNA, leading to a Leu171Pro mutation. The pedigree analysis and the literature data strongly suggest an etiopathogenic relationship of the mutation with the disorder.
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