Article
Molecular studies of liver disease in erythropoietic protoporphyria.
Journal of clinical gastroenterology - 1 Apr 2005
Bloomer Joseph, Wang Yongming, Singhal Anuj, Risheg Hiba
Abstract excerpt
GOALS: The goal of this study was to define molecular determinants of liver disease in erythropoietic protoporphyria (EPP). BACKGROUND: EPP is a genetic disorder in which deficient ferrochelatase activity causes excessive production of protoporphyrin, which is excreted in bile. Some patients develop liver disease that necessitates transplantation. STUDY: Ferrochelatase gene analysis was done in 25 families with...
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