Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis

作者：Jérôme Maluenda, Constance Manso, Loïc Quevarec, Alexandre Joseph Vivanti, Florent Marguet, Marie Gonzalès, Fabien Guimiot, Florence Petit, Annick Toutain, Sandra Whalen, R Grigorescu, Anne Dieux Coeslier, Marta Gut, Ivo Glynne Gut, Annie Laquerrière, Jérôme Joël Devaux, Judith Melki · 发表于：The American Journal of Human Genetics · 年份：2016 · DOI：10.1016/j.ajhg.2016.07.021 · 被引用次数：69 · 研究领域：Neurogenetic and Muscular Disorders Research、RNA Research and Splicing、RNA Interference and Gene Delivery