Functional Characterization of Novel ATP7B Variants for Diagnosis of Wilson Disease

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 i...

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Bibliographic Details
Main Authors: Sarah Guttmann, Friedrich Bernick, Magdalena Naorniakowska, Ulf Michgehl, Sara Reinartz Groba, Piotr Socha, Andree Zibert, Hartmut H. Schmidt
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-04-01
Series:Frontiers in Pediatrics
Subjects:
delay of diagnosis
copper
neuropsychiatric
WD scoring
rare disease
cell model
Online Access:http://journal.frontiersin.org/article/10.3389/fped.2018.00106/full

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