Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis
GLDN 基因突变（编码郎飞氏结节的重要组成部分 gliomedin）是导致致命性关节挛缩症的原因
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.07.021
Jérôme Maluenda, Constance Manso, Loic Quevarec, Alexandre Vivanti, Florent Marguet, Marie Gonzales, Fabien Guimiot, Florence Petit, Annick Toutain, Sandra Whalen, Romulus Grigorescu, Anne Dieux Coeslier, Marta Gut, Ivo Gut, Annie Laquerrière, Jérôme Devaux, Judith Melki
