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Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB

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第一作者: Zankl,A.
作者单位: Servide de Génétique Médicale, Lausanne, 1011, Switzerland [1] Medecine Infantile 3 et Génétique Clinique, Centre Hospitalier Universitaire de Nancy EA 4368 [2] Department of Medical Genetics, University of Antwerp, Antwerp University Hospital, 2650 Antwerp [3] Instituto da Criana, Faculdade de Medicina, Universidade de S?o Paulo, S?o Paulo 05403-000, Brazil [4] Centre for Human Genetics, University Hospitals of Cleveland, Cleveland, OH 44106, United States [5] Department of Paediatrics, Aarhus University Hospital, 8200 Aarhus N, Denmark [6] Department of Clinical Genetics, Aarhus University Hospital, 8200 Aarhus N, Denmark [7] Department of Medical Genetics, University Medical Centre Utrecht, 3508 Utrecht, Netherlands [8] University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, QLD 4102 [9] Department of Neurology, Cantonal Hospital St. Gallen, 9007 St. Gallen, Switzerland [10] Queensland Child and Adolescent Renal Service, Royal Children's and Mater Children's Hospitals [11] Department of Metabolic Medicine, Royal Children's Hospital, Brisbane, QLD 4029, Australia [12] Paediatrics and Child Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New [13]
发布时间 2013-11-20
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The American Journal of Human Genetics

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