Article
C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients.
Virchows Archiv : an international journal of pathology - 1 Jul 2001
Tannapfel A, Stölzel U, Köstler E, Melz S, Richter M, Keim V, Schuppan D, Wittekind C
Abstract excerpt
BACKGROUND AND AIMS: Patients with porphyria cutanea tarda (PCT) have a susceptibility to reversible inactivation of hepatocyte uroporphyrinogen decarboxylase, which can be triggered by alcohol, hepatitis C virus, and other agents. Inherited factors that may predispose to PCT include the C282Y mutation in the hemochromatosis (HFE) gene. METHODS: We analyzed the hemochromatosis mutations C282Y and H63D in liver...
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