Approximately 85% of patients with typical hereditary hemochromatosis (HH) are homozygous for the C282Y mutation (C282Y/C282Y) in the recently identified candidate gene for HH. However, some HH patients are instead homozygous for the wild-type allele (wt/wt) at this locus. These wt/wt patients may r
Tauroursodeoxycholic acid: Relieving the pathogenesis of HFE C282Y hereditary hemochromatosis
β Scribed by Matthew W. Lawless; Arun K. Mankan; Anthony W. Ryan; Suzanne Norris
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 54 KB
- Volume
- 48
- Category
- Article
- ISSN
- 0270-9139
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## With the C282Y Mutation in the HFE Gene To the Editor: The association between hereditary hemochromatosis and thalassemia syndrome might lead to a severe iron overload [1,2], but the results are still controversial. By PCR and restriction enzyme digestion [3], we analyzed the C282Y and H63D muta
## Abstract The aim of this study was to establish the prevalence of __HFE__ gene mutations in the population of the Czech Republic. Altogether, 257 randomly selected newborn screening cards (Guthrie cards) were analyzed for the C282Y and H63D mutations within the __HFE__ gene. Complete results wer