Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene
1998; Wiley; Volume: 11; Issue: 3 Linguagem: Inglês
10.1002/(sici)1098-1004(1998)11
ISSN1098-1004
AutoresParvoneh Poorkaj, Vikram Sharma, Leojean Anderson, Ellen Nemens, Ma Elias Alonso, Harry T. Orr, June White, Leonard L. Heston, Thomas D. Bird, Gerard D. Schellenberg,
Tópico(s)Bioinformatics and Genomic Networks
ResumoMutations in the presenilin genes (PS-1 and PS-2) cause early onset autosomal dominant Alzheimer's disease (AD). Eight early-onset, autopsy-documented familial AD kindreds were screened for mutations in PS-1, and seven different mutations were identified. Three of these were new mutations (G209V, A426P, and E120D), two were previously reported mutations in new families, and three mutations were confirmed in previously published families. Two of these new mutations are found within predicted transmembrane domains (TMDs 4, 7, and 8). The A426P mutation is the most C-terminal PS-1 mutation identified to date. Hum Mutat 11:216–221, 1998. © 1998 Wiley-Liss, Inc.
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