Erythropoietic porphyria
Definition:
References:
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[1]. Emmanuel Richard, et al. Erythropoietic porphyrias: animal models and update in gene-based therapies. Curr Gene Ther. 2008 Jun;8(3):176-86. [Content Brief]
[2]. Jordi To-Figueras, et al. ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. Blood. 2011 Aug 11;118(6):1443-51. [Content Brief]
[3]. Laurent Gouya, et al. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet. 2006 Jan;78(1):2-14. [Content Brief]
[4]. Sharon D Whatley, et al. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am J Hum Genet. 2008 Sep;83(3):408-14. [Content Brief]
[5]. U Gross, et al. Erythropoietic and hepatic porphyrias. J Inherit Metab Dis. 2000 Nov;23(7):641-61. [Content Brief]
[6]. Yoshiko Ohgari, et al. Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer. Hum Mol Genet. 2005 Jan 15;14(2):327-34. [Content Brief]
[7]. Yvette Y Yien, et al. Mutation in human CLPX elevates levels of δ- aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria. Proc Natl Acad Sci U S A. 2017 Sep 19;114(38):E8045-E8052. [Content Brief]
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