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Article

SLC40A1 c.1402G-->a results in aberrant splicing, ferroportin truncation after glycine 330, and an autosomal dominant hemochromatosis phenotype.

Acta haematologica - 1 Jan 2007

Lee Pauline L, Gelbart Terri, West Carol, Barton James C

Abstract excerpt

BACKGROUND/AIMS: To determine the molecular basis of a mild hemochromatosis phenotype in a man of Scottish-Irish descent. METHODS: We sequenced genomic DNA to detect mutations of HFE, SLC40A1, TFR2, HAMP, and HFE2. RNA isolated from blood mononuclear cells was used to make cDNA. RT-PCR was performed to amplify ferroportin from cDNA, and amplified products were visualized by electrophoresis and sequenced. RESULTS:...

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Source

Identifiers

PMID: 18160816
DOI: 10.1159/000112830

Genes

HAMP
HFE
TFR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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