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

@article{ChartierHarlin1991EarlyonsetAD,
  title={Early-onset Alzheimer's disease caused by mutations at codon 717 of the $\beta$-amyloid precursor protein gene},
  author={Marie Christine Chartier-Harlin and Fiona Crawford and Henry Houlden and Andrew C. Warren and David Hughes and Liana Fidani and Alison M. Goate and Martin N. Rossor and Penelope Roques and John Hardy and Mike Mullan},
  journal={Nature},
  year={1991},
  volume={353},
  pages={844-846}
}
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… 
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