Sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene in 14 families with early onset Alzheimer's disease fails to reveal mutations in the beta-amyloid sequence.
A mutation within exon 17 at codon 717 of the beta-amyloid protein precursor (APP) gene is one cause of early onset familial Alzheimer's disease. Direct sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene in 14 families with familial early onset Alzheimer's disease without the known pathogenic mutation (APP717) failed to reveal other mutations within the beta-amyloid sequence in this form of the disorder.
Crawford
F
F
Department of Biochemistry, St. Mary's Hospital Medical School, London, U.K.
Hardy
J
J
Mullan
M
M
Goate
A
A
Hughes
D
D
Fidani
L
L
Roques
P
P
Rossor
M
M
Chartier-Harlin
M C
MC
D000328:Adult; D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D001483:Base Sequence; D005091:Exons; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation
C094559:APP717; D016564:Amyloid beta-Protein Precursor