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Article

Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl.

Haematologica - 1 Mar 2007

Aguilar-Martinez Patricia, Lok Chun Yu, Cunat Séverine, Cadet Estelle, Robson Kathryn, Rochette Jacques

Abstract excerpt

During a screening program we identified a 5-year old girl with elevated iron parameters. The child was found to have a combination of a novel R176C mutation together with the G320V mutation in the juvenile hemochromatosis gene (HJV). The girl was also homozygous for the H63D mutation in HFE. The...

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Source

Identifiers

PMID: 17339196
DOI: 10.3324/haematol.10701

Genes

HFE
HJV

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17339196-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl.PMID 17339196Read ↗

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