Article
A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2.
Archives of neurology - 1 Jan 1999
Yasuda M, Maeda K, Hashimoto M, Yamashita H, Ikejiri Y, Bird T D, Tanaka C, Schellenberg G D
Abstract excerpt
OBJECTIVE: To disclose a novel mutation of the presenilin 1 (PS1) gene responsible for early-onset Alzheimer disease and to clarify genotype-phenotype correlation that should help to establish the function of this protein. BACKGROUND: The PS1 and presenilin 2 (PS2) genes carry missense mutations...
Topics
- Age of Onset
- Aged
- Alzheimer Disease
- Amino Acid Sequence
- Codon
- Conserved Sequence
- Genotype
- Humans
- Japan
- Male
- Membrane Proteins
- Middle Aged
- Molecular Sequence Data
- Mutation
- Neuropsychological Tests
- Pedigree
- Phenotype
- Polymorphism, Restriction Fragment Length