Article
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.
Lancet (London, England) - 1 Feb 1997
Roberts A G, Whatley S D, Morgan R R, Worwood M, Elder G H
Abstract excerpt
BACKGROUND: Sporadic porphyria cutanea tarda is a skin disease associated with hepatic siderosis. Depletion of iron stores by phlebotomy is curative. The role of haemochromatosis genes in determining susceptibility to this disorder is controversial. We have examined the frequency in sporadic porphyria cutanea tarda of mutations (Cys282Tyr, His63Asp) in a novel MHC class-I-like gene, one of which (Cys282Tyr) is...
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