Feline Congenital Erythropoietic Porphyria: Two Homozygous UROS Missense Mutations Cause the Enzyme Deficiency and Porphyrin Accumulation

The first feline model of human congenital erythropoietic porphyria (CEP) due to deficient uroporphyrinogen III synthase (URO-synthase) activity was identified by its characteristic clinical phenotype, and confirmed by biochemical and molecular genetic studies. The proband, an adult domestic shortha...

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Detalles Bibliográficos
Main Authors: Clavero, Sonia, Bishop, David F, Giger, Urs, Haskins, Mark E, Desnick, Robert J
Formato: Artigo
Idioma:Inglês
Publicado: ScholarOne 2010
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2935953/
https://ncbi.nlm.nih.gov/pubmed/20485863
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2119/molmed.2010.00038
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