A novel silent variant at codon 711 and a variant at codon 708 of the APP sequence detected in Spanish Alzheimer and control cases.
Pathogenic mutations have been identified in exons 16 and 17 of the beta-amyloid precursor protein (APP) gene in some cases of early onset Alzheimer's disease. Screening of these exons in a number of familial and sporadic cases of Alzheimer's disease in Spain, resulted in the identification of a novel silent variant at codon 711 whose relevance to the AD pathogenesis remains unclear. The 708 variant was also detected in one of normal controls.
Adroer
R
R
Molecular Genetics Research Group, Faculty of Medicine, University of Barcelona, Spain.
Lopez-Acedo
C
C
Oliva
R
R
Hardy
J
J
Fidani
L
L
D000544:Alzheimer Disease / Q000235:genetics*; D000595:Amino Acid Sequence; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D003062:Codon; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; D014644:Genetic Variation; D006801:Humans; D009154:Mutation; D012016:Reference Values; D013030:Spain
D016564:Amyloid beta-Protein Precursor; D003062:Codon; D004247:DNA