Porphyria
Definition:
References:
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[1]. B Grandchamp, et al. Tissue-specific splicing mutation in acute intermittent porphyria. Proc Natl Acad Sci U S A. 1989 Jan;86(2):661-4. [Content Brief]
[2]. 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]
[3]. J C Deybach, et al. Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. Hum Mol Genet. 1996 Mar;5(3):407-10. [Content Brief]
[4]. J Lamoril, et al. Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene. Biochem Biophys Res Commun. 1991 Dec 16;181(2):594-9. [Content Brief]
[5]. 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]
[6]. P Martasek, et al. Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms. Hum Mol Genet. 1994 Mar;3(3):477-80. [Content Brief]
[7]. Yves Nordmann, et al. Human hereditary hepatic porphyrias. Clin Chim Acta. 2002 Nov;325(1-2):17-37. [Content Brief]
[8]. 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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