Article
Screening for the beta-amyloid precursor protein mutation (APP717: Val----Ile) in extended pedigrees with early onset Alzheimer's disease.
Neuroscience letters - 5 Aug 1991
Chartier-Harlin M C, Crawford F, Hamandi K, Mullan M, Goate A, Hardy J, Backhovens H, Martin J J, Broeckhoven C V
Abstract excerpt
Screening for the APP717 mutation in 5 further families with early onset Alzheimer's disease failed to reveal further cases with this variant. Screening a further 100 normal individuals for this mutation also failed to reveal further occurrences of this variant in the general population. Sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene (the exons which encode the beta-amyloid fragment) in...
Topics
- Alzheimer Disease
- Amyloid beta-Protein Precursor
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 21
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction