Whole-exome sequencing detected a novel APP variant in a Han-Chinese family with Alzheimer's disease.

Wang ZhaoxiaWang ChenyuYuan ZhuangZhuangFan LiangliangLin XueTie-Yu Tang

Published in: Molecular biology reports (2023)

In this study, we identified a new variant of the APP gene (NM_000484.3: c.2045A > T; p.E682V) in members of a family with AD. This provides potential targets for subsequent studies and information that can be used in genetic counselling.

Keyphrases

genome wide
copy number
cognitive decline
photodynamic therapy
healthcare
gene expression
hepatitis c virus
smoking cessation
risk assessment
hiv infected
human immunodeficiency virus
case control