PMID 9106528 1997 Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.
PMID 18157833 2008 An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.
PMID 9024376 1997 Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.
PMID 8696333 1996 A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
PMID 12737937 2004 Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.
PMID 14633868 2003 Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.
PMID 10575540 1999 Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands.
PMID 15965644 2005 Combined, our results indicate that the Q283P mutation leads to structural and functional consequences similar to those described for the main hereditary hemochromatosis mutation.
PMID 10401000 1999 Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.
PMID 16880462 2006 Screening for hemochromatosis: recommendation statement.