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Article

Novel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4.

Internal medicine journal - 1 Jun 2015

Chen S-R, Yang L-Q, Chong Y-T, Jie Y-S, Wu Y-K, Yang J, Lin G-L, Li X-H

Abstract excerpt

Here we report the case of a 69-year-old Chinese Han woman who presented with liver cirrhosis, diabetes mellitus, skin hyperpigmentation, hyperferritinaemia and high transferrin saturation. Subsequent genetic analyses identified a novel heterozygous mutation (p.Cys326Phe) in the SLC40A1 gene. This is the first report regarding a SLC40A1 mutation in the Chinese Han population and provides novel clinical evidence...

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Identifiers

PMID: 26059880
DOI: 10.1111/imj.12764

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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