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Uncommon polymorphism in the presenilin genes in human familial Alzheimer's disease: not to be mistaken with a pathogenic mutation

✍ Scribed by Alberto Lleó; Magda Castellvı́; Rafael Blesa; Rafael Oliva


Book ID
117472391
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
100 KB
Volume
318
Category
Article
ISSN
0304-3940

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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