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Results 1 - 3 of 3 for Erythropoietic protoporphyria
  1. ... in individuals with a form of porphyria called erythropoietic protoporphyria. A mutation in one copy of the FECH ... and one low-expression allele, is necessary for erythropoietic protoporphyria to develop.A shortage of functional ferrochelatase allows ...
  2. ... by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. Hum Genet. 2004 Feb; ...
  3. ... form of porphyria known as X-linked dominant erythropoietic protoporphyria. Each of these mutations deletes a small amount ...