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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
To determine the prevalence of the haemochromatosis associated HFE mutations C282Y and H63D in United Kingdom affected and control populations.
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9462220 |
1997 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.
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9341868 |
1997 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
A polymerase chain reaction method using sequence specific primers is described which might be useful for identifying those individuals carrying the mutation that encodes the His63Asp substitution, who might be at risk from a milder form of haemochromatosis.
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9893753 |
1998 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
Two hundred and fifty samples were genotyped for the C282Y and H63D hemochromatosis causing mutations by fluorescent melting curves.
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9777937 |
1998 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
To test whether genetic haemochromatosis is associated with increased atherosclerosis, we determined the prevalence of two mutations in the HFE gene related to haemochromatosis (845G-->A; Cys282Tyr. and 187 C-->G, His63Asp) in 265 consecutive patients with premature (<50 years of age) angiographically-proven atherosclerotic disease (coronary and/or peripheral), and in 272 healthy controls.
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9753040 |
1998 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
Two siblings in a pedigree without cardiomyopathy were wild-type at the HFE C282Y locus; although the brother harboured a single copy of the 187C-->G (H63D) allele, segregation analysis showed that in neither sibling was the iron-storage disease linked to MHC Class I markers on chromosome 6p.
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10024915 |
1998 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
The gene responsible for HC has recently been cloned and is termed HFE; two missense mutations have been reported in the gene, both cause amino acid substitutions (H63D and C282Y), but to date only the C282Y mutation has been found to clearly correlate with HC in all affected populations.
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9723005 |
1998 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
A simple PCR-SSOP approach based on a single PCR product has been developed to screen the HFE gene for the haemochromatosis-associated mutations Cys 282 Tyr and His 63 Asp.
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9864039 |
1998 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
In conclusion, a new association of the HFE H63D mutation with forms of hemochromatosis other than HH and a new association between the HLA phenotype A29 and the HFE H63D mutation were found in the same patients.
|
9510559 |
1998 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
Compared with those who had no HFE mutation, the relative risk (RR) for hemochromatosis was greatest for C282Y homozygotes (RR = 147), compound heterozygotes (RR = 19), and H63D homozygotes (RR = 9).
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10403350 |
1999 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
The aim of this study was to investigate the basis of iron overload in a patient with classical hemochromatosis who was only heterozygous for C282Y and negative for H63D.
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10348824 |
1999 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
The results confirm that the C282Y substitution was the main mutation involved in hemochromatosis, accounting for 85% of carrier chromosomes, whereas the H63D substitution represented 39% of the HH chromosomes that did not carry the C282Y mutation.
|
10194428 |
1999 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
To determine how HFE genotyping for the C282Y and H63D mutations contributes to the diagnosis of hemochromatosis and to determine the prevalence of HFE mutations in a group of patients with liver disease.
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10383365 |
1999 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
The H63D mutation was present in one genetic haemochromatosis patient and was not useful as a diagnostic marker.
|
10355506 |
1999 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
This confirms that hemochromatosis in Italy is not as homogeneous as in northern Europe and suggests that other mutations can exist in C282Y or H63D heterozygotes with iron overload.
|
10930379 |
2000 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
The aims of this study were: 1) To determine the prevalence of the hemochromatosis associated mutations C282Y and H63D of the HFE gene in patients from Southern Germany with hemochromatosis phenotype; and 2) to test two new, time- and cost-saving methods: automated SSCP-based capillary electrophoresis (SSCP-CE) and a PCR-ELISA technique for the analysis of HFE mutations.
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11686223 |
2001 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
Twenty-three family members had HFE genotype C282Y/H63D; eight of these (35%) had a hemochromatosis phenotype.
|
11336458 |
2001 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
We used the LightCycler technology for simultaneous detection of the H63D and C282Y mutations of the HFE gene in patients with a higher prevalence for hemochromatosis.
|
11676983 |
2001 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
An Irish/Belgian female with an elevated serum ferritin level and a family history of hemochromatosis was tested for the presence of the C282Y and H63D mutations.
|
11531973 |
2001 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
We analyzed the hemochromatosis mutations C282Y and H63D in liver biopsies and serum samples of 190 German patients (mean age 48+/-12.5 years) with sporadic PCT.
|
11499833 |
2001 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
Because many people who are homozygous for the C282Y mutation, or compound heterozygous for the C282Y and H63D mutations, either do not express or only partially express the disease, it is essential to confirm a diagnosis of haemochromatosis on the basis of increased body iron stores.
|
11456037 |
2001 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
First considered as a polymorphism of the HFE gene, the H63D mutation is now widely recognised as a haemochromatosis associated allele.
|
11358905 |
2001 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
We then examined transferrin and ferritin concentrations relative to these centiles in 81 individuals homozygous for the major hemochromatosis mutation C282Y and 438 individuals with the compound heterozygous HFE genotype C282Y/H63D.
|
11568090 |
2001 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
In conclusion, our study is the first to indicate that being a carrier of the H63D hemochromatosis mutation is a risk factor for nephropathy in type 2 diabetic patients.
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11423500 |
2001 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
It is unclear whether screening of relatives of C282Y and H63D heterozygotes (other than compound heterozygotes) for hemochromatosis will detect sufficient numbers of cases to justify introduction of this screening strategy.
|
12121511 |
2002 |