Article
APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease.
American journal of human genetics - 1 Sept 1991
Schellenberg G D, Anderson L, O'dahl S, Wisjman E M, Sadovnick A D, Ball M J, Larson E B, Kukull W A, Martin G M, Roses A D
Abstract excerpt
The amyloid precursor protein (APP) gene codes for the precursor to the beta-protein found in the amyloid deposits of Alzheimer disease (AD). Recently Goate et al. identified in codon 717 of this gene a missense mutation which segregates with AD in a familial AD (FAD) kindred. The same mutation was also found in affected subjects from a second FAD family but not in other FAD families or in normal controls. The...
Topics
- Adult
- Aged
- Aged, 80 and over
- Alzheimer Disease
- Amyloid beta-Peptides
- Amyloid beta-Protein Precursor
- Amyloidosis
- Base Sequence
- Chromosomes, Human, Pair 21
- Down Syndrome
- Europe