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
Enrichment of HFE mutations in Swedish patients with familial and sporadic form of porphyria cutanea tarda
✍ Scribed by P. Harper; Y. Floderus; P. Holmström; G. Eggertsen; M. Gåfvels
- Book ID
- 108861870
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 60 KB
- Volume
- 255
- Category
- Article
- ISSN
- 0954-6820
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Sporadic porphyria cutanea tarda (PCT) is caused by a reduced activity of uroporphyrinogen decarboxylase (URO-D) in the liver. Mild to moderate iron overload is common in PCT, as iron is one of the factors which trigger the clinical manifestations of the disease through the inactivation of URO-D. A
From 1995 to 1997, we prospectively evaluated the prevalence of hepatitis C virus (HCV) RNA in 124 patients with porphyria cutanea tarda (PCT) from Northern France (83 sporadic and 41 familial PCT). Serum samples were analyzed for ferritin, transaminases, HCV antibodies, and HCV RNA. In addition, ge