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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 transmembrane domain of APP. Alternatively, the mutations may destabilize the stem of a putative iron-responsive element...

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Source

Identifiers

PMID: 1619445
DOI: 10.1097/00005072-199207000-00008

Genes

APP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Clinically-silent mutation in the putative iron-responsive element in exon 17 of the beta-amyloid precursor protein gene.PMID 1619445Read ↗

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Presence of a “CAGA box” in the APP gene unique to amyloid plaque‐forming species and absent in all APLP ‐1/2 genes: implications in Alzheimer's diseaseSemantic proximity Read ↗

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