|
rs111033563
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
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.
|
18157833 |
2008 |
|
rs111033563
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Screening for hemochromatosis: recommendation statement.
|
16880462 |
2006 |
|
rs111033563
|
|
|
0.810 |
GeneticVariation |
BEFREE |
We previously supported implication of the C282Y/Q283P compound heterozygous genotype in hemochromatosis phenotypes and, based on molecular dynamics simulations, proposed that the Q283P substitution prevents normal folding of the HFE alpha3-domain.
|
15965644 |
2005 |
|
rs111033563
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Combined, our results indicate that the Q283P mutation leads to structural and functional consequences similar to those described for the main hereditary hemochromatosis mutation.
|
15965644 |
2005 |
|
rs111033563
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.
|
12737937 |
2004 |
|
rs111033563
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Gene symbol: HFE. Disease: Haemochromatosis.
|
15046077 |
2004 |
|
rs111033563
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation.
|
12584229 |
2003 |
|
rs111033563
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
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.
|
14633868 |
2003 |
|
rs111033563
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Comprehensive hereditary hemochromatosis genotyping.
|
12542741 |
2002 |
|
rs111033563
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous for HFE gene.
|
11446670 |
2001 |
|
rs111033563
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy.
|
11423500 |
2001 |
|
rs111033563
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands.
|
10575540 |
1999 |
|
rs111033563
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.
|
10401000 |
1999 |
|
rs111033563
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.
|
10094552 |
1999 |
|
rs111033563
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.
|
10194428 |
1999 |
|
rs111033563
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America.
|
9620340 |
1998 |
|
rs111033563
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.
|
9106528 |
1997 |
|
rs111033563
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.
|
9024376 |
1997 |
|
rs111033563
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
|
8696333 |
1996 |
|
rs111033563
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
|
|
|