Molecular genetics of erythropoietic protoporphyria.

doi:10.1111/j.1600-0781.1998.tb00015.x

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Article

Molecular genetics of erythropoietic protoporphyria.

Photodermatology, photoimmunology & photomedicine - 1 Apr 1998

Todd D J

Abstract excerpt

Erythropoietic protoporphyria (EPP) is caused by decreased activity of the enzyme ferrochelatase and is characterized by burning photosensitivity commencing in childhood. From 1-10% of patients develop potentially fatal protoporphyric hepatic failure. The gene for ferrochelatase has been cloned,...

Topics

Ferrochelatase
Humans
Molecular Biology
Mutation
Porphyria, Hepatoerythropoietic

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