Article
The molecular genetics of erythropoietic protoporphyria.
Cellular and molecular biology (Noisy-le-Grand, France) - 1 Jul 2009
Elder G H, Gouya L, Whatley S D, Puy H, Badminton M N, Deybach J-C
Abstract excerpt
Erythropoietic protoporphyria (EPP) is a syndrome in which accumulation of protoporphyrin IX in erythroid cells, plasma, skin and liver leads to acute photosensitivity and, in about 2% of patients, liver disease. More than 95% of unrelated patients have ferrochelatase (FECH) deficiency (MIM 177000) while about 2% have X-linked dominant protoporphyria (XLDPP) (MIM 300752) caused by gain-of-function mutations in...
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