Clinically-Silent Mutation in the Putative Iron-Responsive Element in Exon 17 of the β-Amyloid Precursor Protein Gene

Three missense mutations in exon 17 of the /3-amyloid precursor protein (APP) gene have been reported to cosegregate in families with early onset Alzheimerʼs disease (AD). All three mutations result in amino acid substitutions at codon 717 and may produce AD by altering the structure of the transmem...

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Veröffentlicht in:	Journal of neuropathology and experimental neurology 1992-07, Vol.51 (4), p.459-463
Hauptverfasser:	Zubenko, George S, Farr, Joan, Stiffler, J Scott, Hughes, Hugh B, Kaplan, Barry B
Format:	Artikel
Sprache:	eng
Schlagworte:	Alzheimer Disease - genetics Amyloid beta-Protein Precursor - genetics Base Sequence Biological and medical sciences Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Exons - physiology Genes, Regulator Humans Iron-Regulatory Proteins Medical sciences Molecular Sequence Data Mutation Neurology Oligonucleotide Probes - genetics RNA-Binding Proteins - genetics
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