|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Unusual retinopathy associated with hemochromatosis.
|
25767899 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
These results suggest that it may be useful to test for both HFE H63D and C282Y polymorphisms in patients with iron overload, as opposed to just genotyping for the C282Y SNP, which is customary in some healthcare centers.
|
23178241 |
2013 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Loss of central and peripheral CD8+ T-cell tolerance to HFE in mouse models of human familial hemochromatosis.
|
22531912 |
2012 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Effect of HFE variants on sphingolipid expression by SH-SY5Y human neuroblastoma cells.
|
21243428 |
2011 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
A cohort of 6,020 men aged 30-53 years was screened for HFE C282Y, H63D, and S65C variants by restriction fragment length polymorphism analysis.
|
19159930 |
2009 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.
|
19554541 |
2009 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Heme carrier protein 1 (HCP1) genetic variants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study participants.
|
19176287 |
2009 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Iron-overload-related disease in HFE hereditary hemochromatosis.
|
18199861 |
2008 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Hemochromatosis and iron-overload screening in a racially diverse population.
|
15858186 |
2005 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.
|
14729817 |
2004 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.
|
11812557 |
2002 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation.
|
11874997 |
2002 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload.
|
12436244 |
2002 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
The C282Y mutation causing hereditary hemochromatosis does not produce a null allele.
|
10381492 |
1999 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
The hemochromatosis 845 G-->A and 187 C-->G mutations: prevalence in non-Caucasian populations.
|
9585606 |
1998 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells.
|
9356458 |
1997 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.
|
9341868 |
1997 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.
|
9321765 |
1997 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Clinical and biochemical abnormalities in people heterozygous for hemochromatosis.
|
8943161 |
1996 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
|
8696333 |
1996 |