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Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

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第一作者: Nakajima,M.
作者单位: Department of Surgery, Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8 [1] Department of Orthopaedic Surgery, Nagoya University, School of Medicine, Nagoya 466-8550, Japan [2] Division of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo [3] Department of Paediatrics, Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8 [4] Medical Genetics Service, University of Lausanne, CHUV, Lausanne 1011, Switzerland [5] Department of Neonatology, Kumamoto University Hospital, Kumamoto 860-8556, Japan [6] Fernando Figueira Integral Medicine Institute (IMIP), Recife PE 50070-550, Brazil [7] Division of Medical Genetics, Saitama Children's Medical Center, Saitama 339-8551, Japan [8] Laboratory for Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo 108 [9] Department of Radiology, National Center for Child Health and Development, Tokyo 157-8535, Japan [10] Department of Orthopaedic Surgery, Central Hospital, Aichi Prefectural Colony, Kasugai 480-0392 [11] Division of Medical Genetics, National Center for Child Health and Development, Tokyo 157-8535 [12] Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas (UNICAMP [13] Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu 183-8561, Japan [14] Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore 229899, Singapore [15] Laboratory of Proteoglycan Signaling and Therapeutics, Graduate School of Life Science, Hokkaido [16] Department of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama 236 [17] Division of Paediatric Genetics, Centre for Pediatrics and Adolescent Medicine, University of [18] Department of Pediatrics, Akita Prefectural Center on Development and Disability, Akita 010-1407 [19] Department of Pediatrics, University of Lausanne, CHUV, Lausanne 1011, Switzerland [20]
发布时间 2013-11-20
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The American Journal of Human Genetics

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