Article
Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer's disease.
Neurobiology of aging - 1 Mar 2016
Barber Imelda S, García-Cárdenas Jennyfer M, Sakdapanichkul Chidchanok, Deacon Christopher, Zapata Erazo Gabriela, Guerreiro Rita, Bras Jose, Hernandez Dena, Singleton Andrew, Guetta-Baranes Tamar, Braae Anne, Clement Naomi, Patel Tulsi, Brookes Keeley, Medway Christopher, Chappell Sally, Mann David M, Morgan Kevin
Abstract excerpt
Early-onset Alzheimer's disease (EOAD) can be familial (FAD) or sporadic EOAD (sEOAD); both have a disease onset ≤65 years of age. A total of 451 sEOAD samples were screened for known causative mutations in exons 16 and 17 of the amyloid precursor protein (APP) gene. Four samples were shown to be heterozygous for 1 of 3 known causative mutations: p.A713T, p.V717I, and p.V717G; this highlights the importance of...
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