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Results 1 - 4 of 4 for protoporphyria
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  1. Porphyria 
    ... growth. Cutaneous porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, and porphyria cutanea tarda.Other types ...
    https://medlineplus.gov/genetics/condition/porphyria -
  2. FECH gene 
    ... individuals with a form of porphyria called erythropoietic protoporphyria. A mutation in one copy of the FECH ... one low-expression allele, is necessary for erythropoietic protoporphyria to develop.A shortage of functional ferrochelatase allows ...
    https://medlineplus.gov/genetics/gene/fech - Genetics
  3. ALAS2 gene 
    ... of porphyria known as X-linked dominant erythropoietic protoporphyria. Each of these mutations deletes a small amount ... gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am J Hum ...
    https://medlineplus.gov/genetics/gene/alas2 - Genetics
  4. CPOX gene 
    ... the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. Hum Genet. 2004 Feb; ...
    https://medlineplus.gov/genetics/gene/cpox - Genetics