A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease
β Scribed by G. Raux; R. Gantier; C. Martin; Y. Pothin; A. Brice; T. Frebourg; D. Campion
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 10 KB
- Volume
- 16
- Category
- Article
- ISSN
- 1059-7794
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Over fifty missense mutations in the presenilin-1 (PSEN1) gene have been reported in families with presenile familial Alzheimer's disease (FAD). We describe a novel missense mutation (G209R) within the predicted fourth transmembrane domain of the PSEN1 in a Japanese family with presenile FAD. The af
Mutations in the presenilin-1 (PS1) gene account for the majority of familial early-onset Alzheimer's disease (EOAD) cases. We screened the coding part of the PS1 gene for the presence of mutations in a French family with EOAD, using single strand conformation polymorphism (SSCP) analysis. Patients