We sequenced the entire coding region of the amyloid precursor protein (APP) genes of 11 unrelated patients with Japanese familial Alzheimer's disease (FAD) in order to determine the exact frequency of known APP gene mutations and to search for novel mutations responsible for FAD. Three out of 11 (2
β¦ LIBER β¦
Neuropsychological profiles of familial Alzheimer's disease associated with mutations in the presenilin 1 and amyloid precursor protein genes
β Scribed by E.K. Warrington; S.K. Agnew; A.M. Kennedy; M.N. Rossor
- Publisher
- Springer
- Year
- 2001
- Tongue
- English
- Weight
- 220 KB
- Volume
- 248
- Category
- Article
- ISSN
- 0340-5354
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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