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- Title
HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from southern France.
- Authors
Dereure, O; Aguilar-Martinez, P; Bessis, D; Perney, P; Vallat, C; Guillot, B; Blanc, F; Guilhou, J J
- Abstract
Porphyria cutanea tarda (PCT) is associated in most cases with iron overload, which may participate in decreased activity of uroporphyrinogen decarboxylase in the liver. The aetiology of this iron overload remains unknown; however, it has been demonstrated that mutations of HFE, the genetic haemochromatosis gene, might be present in a significant proportion of Anglo-Saxon and Italian patients. Furthermore, transferrin receptor polymorphism may influence the affinity of this receptor to its ligand with a subsequent increase of cellular iron absorption and storage.
- Publication
The British journal of dermatology, 2001, Vol 144, Issue 3, p533
- ISSN
0007-0963
- Publication type
Journal Article
- DOI
10.1046/j.1365-2133.2001.04079.x