Mutation analysis of amyloid precursor protein in early-onset familial Alzheimer's disease

• Published in: Nihon rinshō Vol. 51; no. 9; p. 2445
• Main Authors: Naruse, S, Fujigasaki, H, Miyatake, T
• Format: Journal Article
• Language: Japanese
• Published: Japan 01.09.1993
• Subjects: Age of Onset; Aged; Alzheimer Disease - etiology; Alzheimer Disease - genetics; Amino Acid Sequence; Amyloid beta-Protein Precursor - genetics; Base Sequence; Codon; DNA; Humans; Middle Aged; Molecular Sequence Data; Mutation

Recently, three different mutations have been found at codon 717 of the amyloid precursor protein (APP) gene, changing the native valine to isoleucine, phenylalanine and glycine in some familial Alzheimer's disease (FAD) kindreds. More recently, some other mutations have also been reported at c...