Article
Familial Alzheimer's disease. A pedigree with a mis-sense mutation in the amyloid precursor protein gene (amyloid precursor protein 717 valine-->glycine).
Brain : a journal of neurology - 1 Apr 1993
Kennedy A M, Newman S, McCaddon A, Ball J, Roques P, Mullan M, Hardy J, Chartier-Harlin M C, Frackowiak R S, Warrington E K
Abstract excerpt
Ten affected individuals are described from a kindred with autosomal dominant familial Alzheimer's disease in which a mutation in the amyloid precursor protein gene results in a valine to glycine substitution at amyloid precursor protein 717 which co-segregates with the disease. The mean age at o...
Topics
- Adult
- Aged
- Alzheimer Disease
- Amino Acid Sequence
- Amyloid beta-Protein Precursor
- Female
- Glycine
- Humans
- Male
- Middle Aged
- Mutation
- Pedigree
- Valine