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Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations

Human acute intermittent porphyria (AIP), the most common acute hepatic porphyria, is an autosomal dominant inborn error of heme biosynthesis due to the half-normal activity of hydroxymethylbilane synthase (HMB-synthase). Here, we describe the first naturally occurring animal model of AIP in four un...

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Autors principals: Clavero, Sonia, Bishop, David F., Haskins, Mark E., Giger, Urs, Kauppinen, Raili, Desnick, Robert J.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2010
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2807367/
https://ncbi.nlm.nih.gov/pubmed/19934113
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp525
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