PGM3 缺陷型先天性糖基化障碍的临床实用基因卡片。
Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation.
机构信息
Department of Regeneration and Development, Center 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. 2019 Nov;27(11):1757-1760. doi: 10.1038/s41431-019-0453-y. Epub 2019 Jun 23.
Abstract
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in PGM3 in diagnostic, predictive and prenatal settings, and for risk assessment in relatives.
摘要
对 PGM3 基因突变的 DNA 检测在诊断、预测和产前以及亲属风险评估中的分析和临床有效性以及临床实用性进行综述。
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