Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5.

Linders, Peter T A; Gerretsen, Eveline C F; Ashikov, Angel; Vals, Mari-Anne; de Boer, Rinse; Revelo, Natalia H; Arts, Richard; Baerenfaenger, Melissa; Zijlstra, Fokje; Huijben, Karin; Raymond, Kimiyo; Muru, Kai; Fjodorova, Olga; Pajusalu, Sander; Õunap, Katrin; Ter Beest, Martin; Lefeber, Dirk; van den Bogaart, Geert

Linders, Peter T A; Gerretsen, Eveline C F; Ashikov, Angel; Vals, Mari-Anne; de Boer, Rinse; Revelo, Natalia H; Arts, Richard; Baerenfaenger, Melissa; Zijlstra, Fokje; Huijben, Karin; Raymond, Kimiyo; Muru, Kai; Fjodorova, Olga; Pajusalu, Sander; Õunap, Katrin; Ter Beest, Martin; Lefeber, Dirk; van den Bogaart, Geert.

Affiliation

Linders PTA; Department of Tumor Immunology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.
Gerretsen ECF; Department of Tumor Immunology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.
Ashikov A; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.
Vals MA; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.
de Boer R; Children's Clinic, Tartu University Hospital, Tartu, Estonia.
Revelo NH; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Arts R; Molecular Cell Biology, Groningen Biomolecular Sciences and Biotechnology Institute, University of Groningen, Groningen, The Netherlands.
Baerenfaenger M; Department of Tumor Immunology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.
Zijlstra F; Department of Tumor Immunology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.
Huijben K; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.
Raymond K; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.
Muru K; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.
Fjodorova O; Department of Laboratory Medicine and Pathology, Mayo College of Medicine, Rochester, MN, USA.
Pajusalu S; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
Ter Beest M; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
Lefeber D; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
van den Bogaart G; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

Nat Commun ; 12(1): 6227, 2021 10 28.

Article de En | MEDLINE | ID: mdl-34711829

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Malformations / Protéines Qa-SNARE Type d'étude: Prognostic_studies Limites: Humans Langue: En Journal: Nat Commun Sujet du journal: BIOLOGIA / CIENCIA Année: 2021 Type de document: Article Pays d'affiliation: Pays-Bas

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