Condition: THROMBOPHILIA DUE TO THROMBIN DEFECT
rs1799963 in
F2 gene and
THROMBOPHILIA DUE TO THROMBIN DEFECT
PMID 8696333 1996 A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
PMID 11358905 2001 Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?
PMID 19159930 2009 Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants.
PMID 2429850 1986 Can maximum ouabain-sensitive 86Rb+ uptake rate be obtained by increasing Na+ influx?
PMID 9106528 1997 Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.
PMID 8896550 1996 Haemochromatosis and HLA-H.
PMID 21243428 2011 Effect of HFE variants on sphingolipid expression by SH-SY5Y human neuroblastoma cells.
PMID 19560233 2011 HFE polymorphisms affect cellular glutamate regulation.
PMID 9462220 1997 A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium.
PMID 11874997 2002 A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation.
PMID 23429074 2013 A mutation in the HFE gene is associated with altered brain iron profiles and increased oxidative stress in mice.
PMID 19554541 2009 HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.
PMID 21349849 2011 Mutant HFE H63D protein is associated with prolonged endoplasmic reticulum stress and increased neuronal vulnerability.
PMID 11904676 2002 Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium?