Title : Familial Alzheimer's disease. A pedigree with a mis-sense mutation in the amyloid precursor protein gene (amyloid precursor protein 717 valine-->glycine).

Pub. Date : 1993 Apr

PMID : 8461968






1 Functional Relationships(s)
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1 Ten affected individuals are described from a kindred with autosomal dominant familial Alzheimer"s disease in which a mutation in the amyloid precursor protein gene results in a valine to glycine substitution at amyloid precursor protein 717 which co-segregates with the disease. Glycine amyloid beta precursor protein Homo sapiens