Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families.
作者： Kouzin Kamino , Shinji Sato , Yoshiyuki Sakaki , Aoi Yoshiiwa , Yumiko Nishiwaki
DOI: 10.1016/0304-3940(96)12587-8
关键词:
摘要: Abstract Presenilin-1 (PS-1) gene of three Japanese pedigrees with early-onset familial Alzheimer's disease (FAD) disclosed two novel missense mutations resulting in Va196Phe and Ile213Thr, one mutation His163Arg. The mean age at onset a family Hisl63Arg was similar to those reported other families Our results suggested the existence variety PS-1 mutations, that FAD is highly penetrant only rarely subject modulation by genetic or environmental modifying factors.
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