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Article

Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.

Blood cells, molecules & diseases - 1 Jan 2000

Le Gac Gérald, Dupradeau François-Yves, Mura Catherine, Jacolot Sandrine, Scotet Virginie, Esnault Germain, Mercier Anne-Yvonne, Rochette Jacques, Férec Claude

Abstract excerpt

In Caucasians, from 4 to 35% of hereditary hemochromatosis (HH) patients carry a least one chromosome without a common assigned HFE mutation (i.e., C282Y, H63D, and S65C). We have undertaken a D-HPLC scanning of the HFE coding region in such patients in order to identify uncommon mutations liable to explain their high transferrin saturation level. Twenty HH patients from Brittany carrying at least one chromosome...

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Source

Identifiers

PMID: 12737937
DOI: 10.1016/s1079-9796(03)00036-6

Genes

HFE

Variants

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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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