Homozygous TRPV4 mutation...

Neurology: Genetics 2019 / 04 Vol. 5; Iss. 2

Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis

Velilla, Jose, Marchetti, Michael Mario, Toth-Petroczy, Agnes, Grosgogeat, Claire, Bennett, Alexis H., Carmichael, Nikkola, Estrella, Elicia, Darras, Basil T., Frank, Natasha Y., Krier, Joel, Gaudet,
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Volume:
5
Language:
english
Journal:
Neurology Genetics
DOI:
10.1212/NXG.0000000000000312
Date:
April, 2019
File:
PDF, 721 KB
english, 2019
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