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
The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease
β Scribed by Dr. Kari M. Mattila; Charlotte Forsell; Tuula Pirttila; Juha O. Rinne; Terho Lehtimaki; Matias Roytta; Lena Lilius; Anne Eerola; Peter H. St George-Hyslop; Harry Frey; Lars Lannfelt
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 312 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0364-5134
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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