In some, but not all countries, porphyria cutanea tarda (PCT) has been associated with chronic infection with the hepatitis C virus (HCV). Recently, PCT has also been associated with mutations in the HFE gene that are associated with HLA-linked hereditary hemochromatosis. Until now, few studies of t
Mutations in the hemochromatosis gene, porphyria cutanea tarda, and iron overload
β Scribed by George H. Elder; Mark Worwood
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 40 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0270-9139
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
We have characterised three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. The first of these was a G to A substitution in the 5' splice junction of exon 4 which generated an mRNA that lacked exon 4. The second was a nonsense mutation in exon 5 which ch
Viral genotyping was performed in 61 patients with untreated chronic hepatitis C using the Inno-Lipa HCV II assay (Innogenetics, Zwijnaarde, Belgium). Steatosis was graded as previously reported. 1 The association between viral genotype and steatosis was tested using the Pearson' s 2 statistic and t
et al. 6 who also found no association between the C282Y mutation and SPCT. The H63D mutation was observed in 10 of the 48 PCT patients corresponding to 20.8%. Of the 10 individuals diagnosed, 4 belonged to the familial form of PCT and 6 to the sporadic form. The mutations detected were all heteroz