Article
Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases.
American journal of human genetics - 1 Aug 1992
Tanzi R E, Vaula G, Romano D M, Mortilla M, Huang T L, Tupler R G, Wasco W, Hyman B T, Haines J L, Jenkins B J
Abstract excerpt
A genetic locus associated with familial Alzheimer disease (FAD) and a candidate gene, APP, encoding the amyloid protein precursor have both been assigned previously to chromosome 21, and, in a few FAD families, mutations of APP have been detected. However, obligate crossovers between APP and FAD have also been reported in several FAD pedigrees, including FAD4, a large kindred showing highly suggestive evidence...
Topics
- Alzheimer Disease
- Amyloid beta-Protein Precursor
- Base Sequence
- DNA
- DNA Mutational Analysis
- Humans
- Isoleucine
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation