Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation.

Abstract excerpt

Protoporphyria is a genetic disorder in which a deficiency of mitochondrial ferrochelatase activity causes accumulation of protoporphyrin that produces severe liver damage in some patients. In this study, mutations of the ferrochelatase gene were examined in eight unrelated patients who had liver transplantation. RNA was prepared from liver and/ or lymphoblasts, and specific reverse transcriptase-nested...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Folate and B Vitamins Research
• Share to Metabolism and Genetic Disorders
• Share to Porphyrin Metabolism and Disorders