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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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第一作者: Liegel,R.P.
作者单位: Department of Clinical Genetics, Chapel Allerton Hospital, Leeds LS7 4SA, United Kingdom, Leeds [1] Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research [2] Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, WI [3] Institute of Human Genetics, University Medical Centre Freiburg, Freiburg 79106, Germany, National [4] Department of Clinical Genetics, Chapel Allerton Hospital, Leeds LS7 4SA, United Kingdom [5] Department of Biomedical Genetics, University Medical Centre Utrecht, Utrecht 3584 CX, Netherlands [6] Department of Clinical Genetics, Children's University Hospital, 15-274 Bialystok, Poland [7] Department of Child Neurology and Psychiatry, Spedali Civili, Brescia 25123, Italy [8] MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom [9] Division of Medical Genetics, Galliera Hospital, Genova 16128, Italy [10] Institute of Human Genetics, University Medical Centre Freiburg, Freiburg 79106, Germany [11] Jackson Laboratory, Bar Harbor, ME 04609, United States [12] Department of Biochemistry, University of Oxford, Oxford OX1 3QU, United Kingdom [13]
发布时间 2014-03-14
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The American Journal of Human Genetics

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