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Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease.
Panzer, Marlene; Viveiros, André; Schaefer, Benedikt; Baumgartner, Nadja; Seppi, Klaus; Djamshidian, Atbin; Todorov, Theodor; Griffiths, William J H; Schott, Eckart; Schuelke, Markus; Eurich, Dennis; Stättermayer, Albert Friedrich; Bomford, Adrian; Foskett, Pierre; Vodopiutz, Julia; Stauber, Rudolf; Pertler, Elke; Morell, Bernhard; Tilg, Herbert; Müller, Thomas; Kiechl, Stefan; Jimenez-Heredia, Raul; Weiss, Karl Heinz; Hahn, Si Houn; Janecke, Andreas; Ferenci, Peter; Zoller, Heinz.
Afiliação
  • Panzer M; Department of Medicine IMedical University of InnsbruckInnsbruckAustria.
  • Viveiros A; VASCage Research Center on Vascular Ageing and StrokeInnsbruckAustria.
  • Schaefer B; Department of Medicine IMedical University of InnsbruckInnsbruckAustria.
  • Baumgartner N; Department of Medicine IMedical University of InnsbruckInnsbruckAustria.
  • Seppi K; Department of Medicine IMedical University of InnsbruckInnsbruckAustria.
  • Djamshidian A; Department of NeurologyMedical University of InnsbruckInnsbruckAustria.
  • Todorov T; Department of NeurologyMedical University of InnsbruckInnsbruckAustria.
  • Griffiths WJH; Department of Medical Genetics and Molecular BiologyUniversity Hospital LozenetzSofiaBulgaria.
  • Schott E; Cambridge Liver UnitCambridge University Hospitals National Health Service (NHS) Foundation TrustCambridgeUK.
  • Schuelke M; Helios Klinikum Emil von Behring GmbHKlinik für Innere Medizin IIBerlinGermany.
  • Eurich D; Department of NeuropediatricsCharité University Medical Center BerlinBerlinGermany.
  • Stättermayer AF; Department of SurgeryCharité University Medical Center BerlinBerlinGermany.
  • Bomford A; Division of Gastroenterology and HepatologyDepartment of Internal Medicine IIIMedical University ViennaViennaAustria.
  • Foskett P; Institute of Liver StudiesKing's College Hospital NHS Foundation TrustLondonUK.
  • Vodopiutz J; Institute of Liver StudiesKing's College Hospital NHS Foundation TrustLondonUK.
  • Stauber R; Division of Pediatric Pulmology, Allergology, and EndocrinologyDepartment of Pediatrics and Adolescent MedicineComprehensive Center for PediatricsMedical University of ViennaViennaAustria.
  • Pertler E; Division of Gastroenterology and HepatologyDepartment of Internal MedicineMedical University of GrazGrazAustria.
  • Morell B; Department of Medicine IMedical University of InnsbruckInnsbruckAustria.
  • Tilg H; Christian Doppler Laboratory on Iron and Phosphate BiologyInnsbruckAustria.
  • Müller T; Department of Gastroenterology and HepatologyUniversity Hospital ZurichZurichSwitzerland.
  • Kiechl S; Department of Medicine IMedical University of InnsbruckInnsbruckAustria.
  • Jimenez-Heredia R; Department of Pediatrics IMedical University of InnsbruckInnsbruckAustria.
  • Weiss KH; Department of NeurologyMedical University of InnsbruckInnsbruckAustria.
  • Hahn SH; Ludwig Boltzmann Institute for Rare and Undiagnosed DiseasesViennaAustria.
  • Janecke A; Department of Pediatrics and Adolescent MedicineMedical University of ViennaViennaAustria.
  • Ferenci P; St. Anna Children's Cancer Research InstituteViennaAustria.
  • Zoller H; Internal MedicineKrankenhaus Salem der Evangelischen StadtmissionHeidelbergGermany.
Hepatol Commun ; 6(7): 1611-1619, 2022 07.
Article em En | MEDLINE | ID: mdl-35271763
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Degeneração Hepatolenticular Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Hepatol Commun Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Degeneração Hepatolenticular Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Hepatol Commun Ano de publicação: 2022 Tipo de documento: Article