Functional Characterization of Novel ATP7B Variants for Diagnosis of Wilson Disease

• Үндсэн зохиолчид: Sarah Guttmann (Зохиогч), Friedrich Bernick (Зохиогч), Magdalena Naorniakowska (Зохиогч), Ulf Michgehl (Зохиогч), Sara Reinartz Groba (Зохиогч), Piotr Socha (Зохиогч), Andree Zibert (Зохиогч), Hartmut H. Schmidt (Зохиогч)
• Формат: Ном
• Хэвлэсэн: Frontiers Media S.A., 2018-04-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: 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...