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Article

CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients.

Haematologica - 1 Dec 2012

Pelucchi Sara, Mariani Raffaella, Calza Stefano, Fracanzani Anna Ludovica, Modignani Giulia Litta, Bertola Francesca, Busti Fabiana, Trombini Paola, Fraquelli Mirella, Forni Gian Luca, Girelli Domenico, Fargion Silvia, Specchia Claudia, Piperno Alberto

Abstract excerpt

BACKGROUND: Most patients with hereditary hemochromatosis in the Caucasian population are homozygous for the p.C282Y mutation in the HFE gene. The penetrance and expression of hereditary hemochromatosis differ largely among cases of homozygous p.C282Y. Genetic factors might be involved in addition to environmental factors. DESIGN AND METHODS: In the present study, we analyzed 50 candidate genes involved in iron...

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Identifiers

PMID: 22773607
DOI: 10.3324/haematol.2012.062661
PMCID: PMC3590088

Genes

CYBRD1
HFE

Variants

Provenance

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CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients.PMID 22773607Read ↗

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