Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients

A partial deficiency in protoporphyrinogen oxidase (PPOX) produces the acute/cutaneous (or mixed) variegate porphyria (VP), the third most frequent porphyria in Argentina. This autosomal dominant disorder is clinically characterized by skin lesions and/or acute neurovisceral attacks. The precise dia...

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Main Authors: Méndez, Manuel, Granata, Barbara X., Jiménez, María J. Morán, Parera, Victoria E., Batlle, Alcira, de Salamanca, Rafael Enríquez, Rossetti, María V.
Formato: Artigo
Idioma:Inglês
Publicado: Springer Berlin Heidelberg 2011
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509896/
https://ncbi.nlm.nih.gov/pubmed/23430901
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_77
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