Genetic Analysis of 17 Children with Hunter Syndrome: Identification and Functional Characterization of Four Novel Mutations in the Iduronate-2-Sulfatase Gene

导出 LinkOut 学术成果认领

作者单位 Department of Medical Nanobiotechnology, Pirogov Russian State Medical University, Moscow 117997, Russia;Department of Molecular and Genetic Diagnostics, Division of Laboratory Medicine, Institute of Pediatrics,Research Center for Children's Health, Moscow 119991, Russia ^[1] Department of Psychoneurology and Psychosomatic Pathology, Institute of Pediatrics,Research Center for Children's Health, Moscow 119991, Russia ^[2] Department of Molecular and Genetic Diagnostics, Division of Laboratory Medicine, Institute of Pediatrics,Research Center for Children's Health, Moscow 119991, Russia ^[3] Institute of Preventive Pediatrics and Rehabilitation,Research Center for Children's Health,Moscow 119991,Russia ^[4]

关键词 Hunter syndrome Mucopolysaccharidosis type Ⅱ Iduronate-2-sulfatase Mutations Glycosaminoglycans

栏目名称 Original Research

发布时间 2014-05-28

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交