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

Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through linkage analysis, homozygosity mapping, and exome sequencing in four unrelated families affected by lethal AMC, we identified b...

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Bibliografske podrobnosti
izdano v:Am J Hum Genet
Main Authors: Maluenda, Jérôme, Manso, Constance, Quevarec, Loic, Vivanti, Alexandre, Marguet, Florent, Gonzales, Marie, Guimiot, Fabien, Petit, Florence, Toutain, Annick, Whalen, Sandra, Grigorescu, Romulus, Coeslier, Anne Dieux, Gut, Marta, Gut, Ivo, Laquerrière, Annie, Devaux, Jérôme, Melki, Judith
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2016
Teme:
Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5065655/
https://ncbi.nlm.nih.gov/pubmed/27616481
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.07.021
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