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":"早老素-1基因在墨西哥早发性阿尔茨海默病家族中的新Leu171Pro突变","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":"{\"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}","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}
A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease.
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.