|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The 20210 G-->A mutation in the 3'-untranslated region of the prothrombin gene and the risk for arterial thrombotic disease.
|
10027711 |
1999 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
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 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Hemochromatosis (HH) is usually caused by the homozygous state for C282Y mutation in the HFE gene.
|
10216143 |
1999 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Simultaneous genotyping for factor V Leiden and prothrombin G20210A variant by a multiplex PCR-SSCP assay on whole blood.
|
10348711 |
1999 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
IVS3 + 1G --> T in the compound heterozygous state with C282Y results in iron overload that can progress to a severe phenotype of classical hemochromatosis.
|
10348824 |
1999 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Decision analysis techniques are used to compare the outcome, utility, and incremental cost savings of a plan to screen voluntary blood donors and their siblings for hemochromatosis using a genotypic test (C282Y mutation) with phenotypic tests (transferrin saturation, serum ferritin).
|
10364030 |
1999 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
All 66 patients homozygous for the C282Y mutation of HFE had an elevated hepatic iron concentration, but approximately 15% of these patients did not meet a previous diagnostic criterion for hemochromatosis (hepatic iron index > 1.9 mmol/kg per year).
|
10383365 |
1999 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
The HFE wild-type gene product complexes with the transferrin receptor (TF) and two different HFE mutations (Cys282Tyr and His63Asp) have been found to increase the affinity of TFR for TF and increase cellular iron uptake.
|
10383894 |
1999 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
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).
|
10403350 |
1999 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Homozygotes for prothrombin gene 20210 A allele in a thrombophilic family without clinical manifestations of venous thromboembolism.
|
10406905 |
1999 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
High prevalence of the hemochromatosis-associated Cys282Tyr HFE gene mutation in a healthy Norwegian population in the city of Oslo, and its phenotypic expression.
|
10423072 |
1999 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation.
|
10477778 |
1999 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Background-Homozygosity for a relatively common Cys282Tyr mutation of the human hemochromatosis-associated (HFE) gene was recently found to account for most cases of hereditary hemochromatosis.
|
10491370 |
1999 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
The prevalence of two HFE mutations (C282Y and H63D) in 120 chronic hepatitis C patients was determined and the findings were correlated with clinical, histological and virological features.
|
10568758 |
2000 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Significance of linkage disequilibrium between mutation C282Y and a MseI polymorphism in population screening and DNA diagnosis of hemochromatosis.
|
10575550 |
1999 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Granular bodies were absent from the duodenal sections of 8 C282Y negative subjects, from 2 C282Y heterozygotes and 3 C282Y homozygotes, with or without hemochromatosis.
|
10756357 |
2000 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Furthermore, Hfe is not regulated by therapeutic iron depletion in patients with hemochromatosis who are homozygous for the C282Y mutation.
|
10772870 |
2000 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Population screening for hemochromatosis: a comparison of unbound iron-binding capacity, transferrin saturation, and C282Y genotyping in 5,211 voluntary blood donors.
|
10796893 |
2000 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
The 2 nonsense mutations in the compound heterozygous state with C282Y result in the classic hemochromatosis phenotype in several unrelated Italian patients.
|
10930379 |
2000 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
This study demonstrates that PCR-SSP may be used for large-scale population screening for the C282Y genotype associated with hemochromatosis.
|
10953948 |
2000 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Homozygosity for one of these, C282Y, is associated with hemochromatosis in a high percentage of patients.
|
10953949 |
2000 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
5569G/A polymorphism of the HFE gene: no implications for C282Y genotyping in a hemochromatosis screening study of 65,238 individuals.
|
10953954 |
2000 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Celtic origin of the C282Y mutation of hemochromatosis.
|
10953956 |
2000 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan technology.
|
10953958 |
2000 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Nonexpressing homozygotes for C282Y hemochromatosis: minority or majority of cases?
|
11001800 |
2000 |