Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).
作者信息
Coote David J, Davis Mark R, Cabrera Macarena, Needham Merrilee, Laing Nigel G, Nowak Kristen J
机构信息
Centre for Medical Research, Faculty of Health and Medical Sciences, The University of Western Australia; and Harry Perkins Institute of Medical Research, QQ Block, QEII Medical Centre, Nedlands, WA, 6009, Australia.
Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, WA, 6009, Australia.
出版信息
Eur J Hum Genet. 2018 Jul;26(7):1072-1077. doi: 10.1038/s41431-017-0065-3. Epub 2018 Apr 26.
Abstract
摘要
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