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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, sequenced and mapped to the long arm of chromosome 18. EPP is genetically very heterogeneous and 24 different mutations...

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PMID: 9638728
DOI: 10.1111/j.1600-0781.1998.tb00015.x

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