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

Title
Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis
Authors
Keywords
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Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 99, Issue 4, Pages 928-933
Publisher
Elsevier BV
Online
2016-09-13
DOI
10.1016/j.ajhg.2016.07.021

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