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Functional Characterization of Novel ATP7B Variants for Diagnosis of Wilson Disease

Background: Diagnosis of rare Wilson disease (WD) in pediatric patients is difficult, in particular when hepatic manifestation is absent. Genetic analysis of ATP7B represents the single major determinant of the diagnostic scoring system in WD children having mild symptoms. Objectives: To assess the...

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Detalhes bibliográficos
Publicado no:Front Pediatr
Main Authors: Guttmann, Sarah, Bernick, Friedrich, Naorniakowska, Magdalena, Michgehl, Ulf, Groba, Sara Reinartz, Socha, Piotr, Zibert, Andree, Schmidt, Hartmut H.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5937294/
https://ncbi.nlm.nih.gov/pubmed/29761093
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2018.00106
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