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Article

A Q312X mutation in the hemojuvelin gene is associated with cardiomyopathy due to juvenile haemochromatosis.

European journal of heart failure - 1 Oct 2008

Nagayoshi Yasuhiro, Nakayama Masafumi, Suzuki Satoru, Hokamaki Jun, Shimomura Hideki, Tsujita Kenichi, Fukuda Masaya, Yamashita Takuro, Nakamura Yoshinori, Sugiyama Seigo, Ogawa Hisao

Abstract excerpt

BACKGROUND AND AIMS: Juvenile haemochromatosis (JH) is an autosomal recessive iron disorder characterized by the early onset of secondary cardiomyopathy. The candidate modifier genes are hemojuvelin (HJV) and hepcidin antimicrobial peptide (HAMP). In the Japanese population, the prevalence of JH is quite low. The influence of HJV mutation on the JH phenotype is still unclear. METHODS AND RESULTS: We searched for...

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Source

Identifiers

PMID: 18725184
DOI: 10.1016/j.ejheart.2008.07.012

Genes

HJV
HAMP

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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A Q312X mutation in the hemojuvelin gene is associated with cardiomyopathy due to juvenile haemochromatosis.PMID 18725184Read ↗

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