Article thumbnail

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

By 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 and Judith Melki
Publisher: Elsevier BV
Year: 2016
DOI identifier: 10.1016/j.ajhg.2016.07.021
OAI identifier:
Provided by: MUCC (Crossref)
Download PDF:
Sorry, we are unable to provide the full text but you may find it at the following location(s):
  • https://doi.org/10.1016/j.ajhg... (external link)
  • Suggested articles


    To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.