Clinical utility gene card for: Prader-Willi Syndrome.

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第一作者： Karin,Buiting

第一单位： Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.

作者： Karin,Buiting ^[1] ; Suzanne B,Cassidy ^[2] ; Daniel J,Driscoll ^[3] ; Gabriele,Gillessen-Kaesbach ^[4] ; Deniz,Kanber ^[1] ; Maithé,Tauber ^[5] ; Eberhard,Schwinger ^[4] ; Bernhard,Horsthemke ^[1]

作者单位： Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany. ^[1] Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, CA, USA. ^[2] Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA. ^[3] Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany. ^[4] 1] Centre de référence du syndrome de Prader-Willi, service d'endocrinologie, Hôpital des Enfants, CHU Toulouse, Toulouse, France [2] Centre de Physiopathologie de Toulouse Purpan, INSERM UMR 1043, Toulouse, France. ^[5]

主题词染色体畸变(Chromosome Aberrations);基因检测(Genetic Testing);人类(Humans);核蛋白质类(Nuclear Proteins);Prader-Willi综合征(Prader-Willi Syndrome);snRNP核心蛋白质类(snRNP Core Proteins)

DOI 10.1038/ejhg.2014.66

PMID 24736734

发布时间 2021-10-21

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