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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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Detalhes bibliográficos
Main Authors: Clavero, Sonia, Bishop, David F., Haskins, Mark E., Giger, Urs, Kauppinen, Raili, Desnick, Robert J.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2010
Assuntos:
Acesso em linha: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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