Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene - PubMed (original) (raw)

Case Reports

. 1991 Oct 31;353(6347):844-6.

doi: 10.1038/353844a0.

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Case Reports

Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene

M C Chartier-Harlin et al. Nature. 1991.

Abstract

A mutation at codon 717 of the beta-amyloid precursor protein gene has been found to cosegregate with familial Alzheimer's disease in a single family. This mutation has been reported in a further five out of approximately 100 families multiply affected by Alzheimer's disease. We have identified another family, F19, in which we have detected linkage between the beta-amyloid precursor protein gene and Alzheimer's disease. Direct sequencing of exon 17 in affected individuals from this family has revealed a base change producing a Val----Gly substitution, also at codon 717. The occurrence of a second allelic variant at codon 717 linked to the Alzheimer's phenotype supports the hypothesis that they are pathogenic mutations.

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