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Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3 |
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| Authors: | Birgit S Budde Shuji Mizumoto Ryo Kogawa Christian Becker Janine Altmüller Holger Thiele Franz Rüschendorf Mohammad R Toliat Gerrit Kaleschke Johannes M Hämmerle Wolfgang Höhne Kazuyuki Sugahara Peter Nürnberg Ingo Kennerknecht |
| Institution: | 1. Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany 10. Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan 2. Laboratory of Proteoglycan Signaling and Therapeutics, Faculty of Advanced Life Science, Graduate School of Life Science, Hokkaido University, Sapporo, Japan 3. Institute of Human Genetics, University of Cologne, 50931, Cologne, Germany 4. Max Delbrück Center for Molecular Medicine, Berlin, Germany 5. Division of Adult Congenital and Valvular Heart Disease, Department of Cardiovascular Medicine, University Hospital Münster, Münster, Germany 6. Yayasan Pusaka Nias, Gunung Sitoli, Nias, Sumatra Utara, Indonesia 7. Cologne Cluster of Excellence on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany 8. Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany 9. Institute of Human Genetics, Westf?lische Wilhelms Universit?t, Münster, Germany |
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