X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene

Published 2015 View Full Article

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Title
X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene
Authors
Keywords
SMAX2, UBA1, gene, Arthrogryposis, Hypotonia, Arflexia, Congenital fractures
Journal
NEUROMUSCULAR DISORDERS
Volume 25, Issue 8, Pages 661-666
Publisher
Elsevier BV
Online
2015-05-09
DOI
10.1016/j.nmd.2015.05.001

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