Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.
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Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.Glial M6B stabilizes the axonal membrane at peripheral nodes of Ranvier.Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).
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Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 03 September 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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Mutations in GLDN, Encoding Gl ...... ble for Lethal Arthrogryposis.
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Mutations in GLDN, Encoding Gl ...... ble for Lethal Arthrogryposis.
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Mutations in GLDN, Encoding Gl ...... ble for Lethal Arthrogryposis.
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Mutations in GLDN, Encoding Gl ...... ble for Lethal Arthrogryposis.
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Mutations in GLDN, Encoding Gl ...... ble for Lethal Arthrogryposis.
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Mutations in GLDN, Encoding Gl ...... ble for Lethal Arthrogryposis.
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Mutations in GLDN, Encoding Gl ...... ible for Lethal Arthrogryposis
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Anne Dieux Coeslier
Annie Laquerrière
Constance Manso
Fabien Guimiot
Florence Petit
Florent Marguet
Judith Melki
Marie Gonzales
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P356
10.1016/J.AJHG.2016.07.021
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2016-09-08T00:00:00Z