familial Alzheimer's disease [APP/VAL717ILE]

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Introduction

Genetic abnormality in one group of familial Alzheimer's disease patients.

More general terms

References

  1. Goate A, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, Fidani L, Giuffra L, Haynes A, Irving N, James L, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature. 1991 Feb 21;349(6311):704-6. PMID: https://www.ncbi.nlm.nih.gov/pubmed/1671712