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
Mutational screening analysis of DHCR24/seladin-1 gene in Italian familial Alzheimer's disease
β Scribed by Andrea Tedde; Elena Cellini; Silvia Bagnoli; Sandro Sorbi; Alessandro Peri
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 57 KB
- Volume
- 147B
- Category
- Article
- ISSN
- 1552-4841
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Many different mutations that cause Alzheimer's disease (AD) have been found in the presenilin-1 gene (PSEN1) and are associated with the most aggressive forms of the disease. With the aim of screening for PSEN1 genetic variations, we developed a method based on denaturing gradient gel electrophores
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