Title : [Molecular genetic diagnostics and screening of hereditary hemochromatosis].

Pub. Date : 2006 Jun

PMID : 16871764






1 Functional Relationships(s)
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1 In recent years, a candidate gene for HLA-linked hemochromatosis, HFE, has been cloned, and a single G-to-A mutation resulting in a cysteine-to-tyrosine substitution (C282Y) has been identified in up to 80% of study patients with type 1 hereditary hemochromatosis. Cysteine homeostatic iron regulator Homo sapiens