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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Detalles Bibliográficos
Autores principales: Guttmann, Sarah, Bernick, Friedrich, Naorniakowska, Magdalena, Michgehl, Ulf, Groba, Sara Reinartz, Socha, Piotr, Zibert, Andree, Schmidt, Hartmut H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5937294/
https://www.ncbi.nlm.nih.gov/pubmed/29761093
http://dx.doi.org/10.3389/fped.2018.00106

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5937294/
https://www.ncbi.nlm.nih.gov/pubmed/29761093
http://dx.doi.org/10.3389/fped.2018.00106

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