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Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease.

Autor: Panzer M; Department of Medicine IMedical University of InnsbruckInnsbruckAustria.; VASCage Research Center on Vascular Ageing and StrokeInnsbruckAustria., Viveiros A; Department of Medicine IMedical University of InnsbruckInnsbruckAustria., Schaefer B; Department of Medicine IMedical University of InnsbruckInnsbruckAustria., Baumgartner N; Department of Medicine IMedical University of InnsbruckInnsbruckAustria., Seppi K; Department of NeurologyMedical University of InnsbruckInnsbruckAustria., Djamshidian A; Department of NeurologyMedical University of InnsbruckInnsbruckAustria., Todorov T; Department of Medical Genetics and Molecular BiologyUniversity Hospital LozenetzSofiaBulgaria., Griffiths WJH; Cambridge Liver UnitCambridge University Hospitals National Health Service (NHS) Foundation TrustCambridgeUK., Schott E; Helios Klinikum Emil von Behring GmbHKlinik für Innere Medizin IIBerlinGermany., Schuelke M; Department of NeuropediatricsCharité University Medical Center BerlinBerlinGermany., Eurich D; Department of SurgeryCharité University Medical Center BerlinBerlinGermany., Stättermayer AF; Division of Gastroenterology and HepatologyDepartment of Internal Medicine IIIMedical University ViennaViennaAustria., Bomford A; Institute of Liver StudiesKing's College Hospital NHS Foundation TrustLondonUK., Foskett P; Institute of Liver StudiesKing's College Hospital NHS Foundation TrustLondonUK., Vodopiutz J; Division of Pediatric Pulmology, Allergology, and EndocrinologyDepartment of Pediatrics and Adolescent MedicineComprehensive Center for PediatricsMedical University of ViennaViennaAustria., Stauber R; Division of Gastroenterology and HepatologyDepartment of Internal MedicineMedical University of GrazGrazAustria., Pertler E; Department of Medicine IMedical University of InnsbruckInnsbruckAustria.; Christian Doppler Laboratory on Iron and Phosphate BiologyInnsbruckAustria., Morell B; Department of Gastroenterology and HepatologyUniversity Hospital ZurichZurichSwitzerland., Tilg H; Department of Medicine IMedical University of InnsbruckInnsbruckAustria., Müller T; Department of Pediatrics IMedical University of InnsbruckInnsbruckAustria., Kiechl S; Department of NeurologyMedical University of InnsbruckInnsbruckAustria., Jimenez-Heredia R; Ludwig Boltzmann Institute for Rare and Undiagnosed DiseasesViennaAustria.; Department of Pediatrics and Adolescent MedicineMedical University of ViennaViennaAustria.; St. Anna Children's Cancer Research InstituteViennaAustria., Weiss KH; Internal MedicineKrankenhaus Salem der Evangelischen StadtmissionHeidelbergGermany., Hahn SH; University of Washington School of MedicineSeattle Children's HospitalSeattleWashingtonUSA., Janecke A; Department of Pediatrics IMedical University of InnsbruckInnsbruckAustria., Ferenci P; Division of Gastroenterology and HepatologyDepartment of Internal Medicine IIIMedical University ViennaViennaAustria., Zoller H; Department of Medicine IMedical University of InnsbruckInnsbruckAustria.; Christian Doppler Laboratory on Iron and Phosphate BiologyInnsbruckAustria.

Publikováno v: Hepatology communications [Hepatol Commun] 2022 Jul; Vol. 6 (7), pp. 1611-1619. Date of Electronic Publication: 2022 Mar 10.