Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria

Erythropoietic protoporphyria (EPP) is an inherited disorder of heme biosynthesis that results from a partial deficiency of ferrochelatase (FECH). Recently, we have shown that the inheritance of the common hypomorphic IVS3-48C allele trans to a deleterious mutation reduces FECH activity to below a c...

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Main Authors: Gouya, Laurent, Martin-Schmitt, Caroline, Robreau, Anne-Marie, Austerlitz, Frédéric, Silva, Vasco Da, Brun, Patrick, Simonin, Sylvie, Lyoumi, Saïd, Grandchamp, Bernard, Beaumont, Carole, Puy, Hervé, Deybach, Jean-Charles
Format: Artigo
Language:Inglês
Published: The American Society of Human Genetics 2006
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1380220/
https://ncbi.nlm.nih.gov/pubmed/16385445
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