کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
4932851 | 1433534 | 2017 | 15 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Novel presenilin 1 mutation (p.F386I) in a Chinese family with early-onset Alzheimer's disease
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Novel presenilin 1 mutation (p.F386I) in a Chinese family with early-onset Alzheimer's disease Novel presenilin 1 mutation (p.F386I) in a Chinese family with early-onset Alzheimer's disease](/preview/png/4932851.png)
چکیده انگلیسی
Autosomal dominant familial Alzheimer's disease accounts for 0.5% of all Alzheimer's disease. A familial Alzheimer's disease Chinese family, with 7 affected family members, underwent PSEN1 screening in 3 affected family members. A heterozygous novel missense mutation in the PSEN1 gene c.1156T>A, altering phenylalanine to isoleucine at codon 386, was identified. Because the change occurred in conserved domains of this gene and cosegregated with affected family members, this change may have a mutagenic and probably pathogenic effect.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neurobiology of Aging - Volume 50, February 2017, Pages 168.e9-168.e11
Journal: Neurobiology of Aging - Volume 50, February 2017, Pages 168.e9-168.e11
نویسندگان
Yat-Fung Shea, Angel On-Kei Chan, Leung-Wing Chu, Shui-Ching Lee, Chun-yin Law, Chung-him See, Kit-ling Yiu, Patrick Ka-Chun Chiu,