Progress on Erythropoietic Protoporphyria
Gan Xiao
Abstract
Gan Xiao
Abstract
Erythropoietic protoporphyria(EPP) is an autosome recessive inheritance disease which caused by ferrochelatase(FC) gene defection.A decrease in FC activity leads to lower heme contents and excessive accumulation of protoporphyrin and precurosor.The typical characteristic and detection method of EPP,research progress on FC gene were reviewed in the article.
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Erythropoietic protoporphyria(EPP) is an autosome recessive inheritance disease which caused by ferrochelatase(FC) gene defection.A decrease in FC activity leads to lower heme contents and excessive accumulation of protoporphyrin and precurosor.The typical characteristic and detection method of EPP,research progress on FC gene were reviewed in the article.
Key concepts: Erythropoietic protoporphyria, Ferrochelatase, Protoporphyrin, Porphyria, Genetics, Autosome, Inheritance (genetic algorithm), Gene