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Article

[Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin gene].

Ugeskrift for laeger - 15 Apr 2013

Berg Line Brunemark, Milman Nils Thorm, Friis-Hansen Lennart, Jensen Peter-Diedrich Mathias, Fründ Torben

Abstract excerpt

Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin (HJV) gene was diagnosed in a 12-year-old Danish girl and her 10-year-old sister. Both appeared healthy without clinical or biochemical signs of organ damage. They had iron overload (plasma transferrin saturation 81 and 80%, plasma ferritin 3,671 and 1,356 microgram/l, liver iron content of 375 and 361 micromol/g dry weight,...

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Source

Identifiers

PMID: 23651750

Genes

HJV

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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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[Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin gene].PMID 23651750Read ↗

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