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Chondroitin Sulfate N‐acetylgalactosaminyltransferase‐1 (CSGalNAcT‐1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity
Authors:Julia Vodopiutz  Shuji Mizumoto  Ekkehart Lausch  Antonio Rossi  Sheila Unger  Nikolaus Janocha  Rossella Costantini  Rainer Seidl  Susanne Greber‐Platzer  Shuhei Yamada  Thomas Müller  Bernd Jilma  Rudolf Ganger  Andrea Superti‐Furga  Shiro Ikegawa  Andreas R. Janecke
Affiliation:1. Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria;2. Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Tempaku ku, Nagoya, Japan;3. Department of Pediatrics, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany;4. Department of Molecular Medicine, Unit of Biochemistry, University of Pavia, Pavia, Italy;5. Department of Medical Genetics, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Lausanne, Switzerland;6. Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria;7. Department of Clinical Pharmacology, Medical University of Vienna, Vienna, Austria;8. Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria;9. Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Lausanne, Switzerland;10. Laboratory for Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan
Abstract:
Keywords:CSGALNACT1  chondroitin sulfate N‐acetylgalactosaminyltransferase‐1  skeletal dysplasia  glycosaminoglycan  proteoglycan
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