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Letters to Nature
Nature 353, 844 - 846 (31 October 1991); doi:10.1038/353844a0

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

Marie-Christine Chartier-Harlin, Fiona Crawford, Henry Houlden, Andrew Warren*, David Hughes, Liana Fidani, Alison Goate, Martin Rossor, Penelope Roques, John Hardy & Mike Mullan

Alzheimer's Disease Research Group, Departments of Biochemistry and Neurology, St Mary's Hospital Medical School, Imperial College, London W2 1PG, UK
*Departments of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
To whom correspondence should be addressed

A MUTATION at codon 717 of the β-amyloid precursor protein gene has been found to cosegregate with familial Alzheimer's disease in a single family1. This mutation has been reported in a further five out of ~ 100 families multiply affected by Alzheimer's disease1–4. We have identified another family, F19, in which we have detected linkage between the β-amyloid precursor protein gene and Alzheimer's disease. Direct sequencing of exon 17 (ref. 5) in affected individuals from this family has revealed a base change producing a Val right arrow 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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