Functional Characterization of Novel ATP7B Variants for Diagnosis of Wilson Disease

• Main Authors: Sarah Guttmann (Author), Friedrich Bernick (Author), Magdalena Naorniakowska (Author), Ulf Michgehl (Author), Sara Reinartz Groba (Author), Piotr Socha (Author), Andree Zibert (Author), Hartmut H. Schmidt (Author)
• Format: Book
• Published: Frontiers Media S.A., 2018-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...