|
HEMOCHROMATOSIS, TYPE 1
|
|
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Screening for hemochromatosis: recommendation statement.
|
16880462 |
2006 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.
|
12737937 |
2004 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Gene symbol: HFE. Disease: Haemochromatosis.
|
15046077 |
2004 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation.
|
12584229 |
2003 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Comprehensive hereditary hemochromatosis genotyping.
|
12542741 |
2002 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous for HFE gene.
|
11446670 |
2001 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.
|
10401000 |
1999 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.
|
10094552 |
1999 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.
|
10194428 |
1999 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America.
|
9620340 |
1998 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.
|
9106528 |
1997 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.
|
9024376 |
1997 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
|
8696333 |
1996 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
Adult Acute Lymphocytic Leukemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).
|
15863206 |
2005 |
|
Acute leukemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).
|
15863206 |
2005 |
|
Acute lymphocytic leukemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).
|
15863206 |
2005 |
|
Childhood Acute Lymphoblastic Leukemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).
|
15863206 |
2005 |
|
Hemochromatosis
|
|
0.010 |
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 |