Article
Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene.
Nature - 31 Oct 1991
Chartier-Harlin M C, Crawford F, Houlden H, Warren A, Hughes D, Fidani L, Goate A, Rossor M, Roques P, Hardy J
Abstract excerpt
A mutation at codon 717 of the beta-amyloid precursor protein gene has been found to cosegregate with familial Alzheimer's disease in a single family. This mutation has been reported in a further five out of approximately 100 families multiply affected by Alzheimer's disease. We have identified a...
Topics
- Alzheimer Disease
- Amino Acid Sequence
- Amyloid beta-Protein Precursor
- Base Composition
- Base Sequence
- Codon
- Exons
- Female
- Genes
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Pedigree
- Polymerase Chain Reaction