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Article

[Mutation analysis of the pathogenic gene in a Chinese family with hereditary hemochromatosis].

Yi chuan = Hereditas - 1 Nov 2014

Yuanfeng Li, Hongxing Zhang, Haitao Zhang, Xiaobo Peng, Lili Bai, Fuchu He, Zewu Qiu, Gangqiao Zhou

Abstract excerpt

Hereditary hemochromatosis (HHC) is a rare autosomal recessive disorder. We recruited a consanguineous Chinese family including the proband with HHC and other four members without HHC. Using whole-exome sequencing, we identified two homozygous mutations (c.G18C [p.Q6H] and c.GC962_963AA [p.C321X]...

Read the complete abstract on PubMed

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Histocompatibility Antigens Class I

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Source

Identifiers

PMID: 25567873
DOI: 10.3724/SP.J.1005.2014.1152

Genes

HJV
GPI
HAMP
HFE
TFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25567873-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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