Article
Correlation between genotype and phenotype in hereditary hemochromatosis: analysis of 61 cases.
Blood cells, molecules & diseases - 1 Aug 1997
Sham R L, Ou C Y, Cappuccio J, Braggins C, Dunnigan K, Phatak P D
Abstract excerpt
This report assesses the degree of iron overload in a cohort of patients in relationship to the presence or absence of the recently described 845 G-->A (C282Y) and 187 C-->G (H63D) mutations in the HFE (HLA-H) gene. Sixty-one patients with hereditary hemochromatosis diagnosed either with liver biopsy or on clinical grounds were included in this analysis. Forty-one patients were homozygous for C282Y, the genotype...
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