Article
Clinically-silent mutation in the putative iron-responsive element in exon 17 of the beta-amyloid precursor protein gene.
Journal of neuropathology and experimental neurology - 1 Jul 1992
Zubenko G S, Farr J, Stiffler J S, Hughes H B, Kaplan B B
Abstract excerpt
Three missense mutations in exon 17 of the beta-amyloid precursor protein (APP) gene have been reported to cosegregate in families with early onset Alzheimer's disease (AD). All three mutations result in amino acid substitutions at codon 717 and may produce AD by altering the structure of the tra...
Topics
- Alzheimer Disease
- Amyloid beta-Protein Precursor
- Base Sequence
- Exons
- Genes, Regulator
- Humans
- Iron-Regulatory Proteins
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- RNA-Binding Proteins