SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card.
作者信息
Jaeken Jaak, Lefeber Dirk J, Matthijs Gert
机构信息
Department of Development and Regeneration, Centre for Metabolic Diseases, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium.
Department of Neurology, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands.
出版信息
Eur J Hum Genet. 2020 Sep;28(9):1297-1300. doi: 10.1038/s41431-020-0647-3. Epub 2020 May 18.
Abstract
摘要
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