A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
作者信息
Toro Camilo, Hori Roderick T, Malicdan May Christine V, Tifft Cynthia J, Goldstein Amy, Gahl William A, Adams David R, Fauni Harper B, Wolfe Lynne A, Xiao Jianfeng, Khan Mohammad M, Tian Jun, Hope Kevin A, Reiter Lawrence T, Tremblay Michel G, Moss Tom, Franks Alexis L, Balak Chris, LeDoux Mark S
机构信息
Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Department of Microbiology, Immunology and Biochemistry, University of Tennessee Health Science Center, Memphis, TN, USA.
出版信息
Hum Mol Genet. 2018 Apr 1;27(7):1310. doi: 10.1093/hmg/ddy049.
Abstract
摘要
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