Article
A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease.
Neurodegeneration : a journal for neurodegenerative disorders, neuroprotection, and neuroregeneration - 1 Sept 1996
Perez-Tur J, Croxton R, Wright K, Phillips H, Zehr C, Crook R, Hutton M, Hardy J, Karran E, Roberts G W, Lancaster S, Haltia T
Abstract excerpt
Recent studies suggest that mutations in the presenilin 1 gene, which encodes a polypeptide predicted to be a multispanning membrane protein, are responsible for the majority of cases of early onset, autosomal dominant Alzheimer's disease. Here we describe a further mutation in the presenilin 1 gene (R269G) in a family with early onset Alzheimer's disease. This mutation is in exon 8 which appears to be a favoured...
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