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Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses

Erythrodontia is the hallmark of human congenital erythropoietic porphyria (CEP), but is also a major phenotypic feature of acute intermittent porphyria (AIP) in cats. In this study, detailed biochemical and molecular analyses were performed on two unrelated cats with autosomal dominant AIP that pre...

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Autors principals: Clavero, Sonia, Ahuja, Yuri, Bishop, David F., Kwait, Brittany, Haskins, Mark E., Giger, Urs, Desnick, Robert J.
Format: Artigo
Idioma:Inglês
Publicat: 2013
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3963809/
https://ncbi.nlm.nih.gov/pubmed/24239138
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.tvjl.2013.10.008
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