Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans |
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| Authors: | Ryan P. Liegel,Mark T. Handley,Adam Ronchetti,Stephen Brown,Lars Langemeyer,Andrea Linford,Bo Chang,Deborah J. Morris-Rosendahl,Sarah Carpanini,Renata Posmyk,Verity Harthill,Eamonn Sheridan,Ghada M.H. Abdel-Salam,Paulien A. Terhal,Francesca Faravelli,Patrizia Accorsi,Lucio Giordano,Lorenzo Pinelli,Britta Hartmann,Allison D. Ebert,Francis A. Barr,Irene A. Aligianis,Duska J. Sidjanin |
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| Affiliation: | 1 Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA;2 Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI 53226, USA;3 MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh EH4 2XU, UK;4 Department of Biochemistry, University of Oxford, Oxford OX1 3QU, UK;5 Jackson Laboratory, Bar Harbor, ME 04609, USA;6 Institute of Human Genetics, University Medical Centre Freiburg, Freiburg 79106, Germany;7 Department of Clinical Genetics, Children’s University Hospital, 15-274 Bialystok, Poland;8 Department of Clinical Genetics, Chapel Allerton Hospital, Leeds LS7 4SA, UK;9 Leeds Institute of Molecular Medicine, St James’s University Hospital, Leeds LS9 7TF, UK;10 Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo 12622, Egypt;11 Department of Biomedical Genetics, University Medical Centre Utrecht, Utrecht 3584 CX, the Netherlands;12 Division of Medical Genetics, Galliera Hospital, Genova 16128, Italy;13 Department of Child Neurology and Psychiatry, Spedali Civili, Brescia 25123, Italy |
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