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Article

Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.

American journal of human genetics - 1 Oct 2007

Milet Jacqueline, Dehais Valerie, Bourgain Catherine, Jouanolle Anne Marie, Mosser Annick, Perrin Michele, Morcet Jeff, Brissot Pierre, David Veronique, Deugnier Yves, Mosser Jean

Abstract excerpt

Most cases of genetic hemochromatosis (GH) are associated with the HFE C282Y/C282Y (p.Cys282Tyr/p.Cys282Tyr) genotype in white populations. The symptoms expressed by C282Y homozygotes are extremely variable. Only a few suffer from an overt disease. Several studies have suggested that, in addition to environmental factors, a genetic component could explain a substantial part of this phenotypic variation, although...

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Source

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Identifiers

PMID: 17847004
DOI: 10.1086/520001
PMCID: PMC2227929

Genes

HFE
BMP2
BMP4
HJV
HAMP
SMAD1
SMAD4
SMAD5
TFR2

Variants

Provenance

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Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.PMID 17847004Read ↗

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