Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability

Published 2017 View Full Article

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Title
Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability
Authors
Keywords
Spastic paraplegia type 4 (SPG4), SPAST, Splice site donor variant, Nonsense-Mediated mRNA Decay (NMD), Phenotype variability
Journal
JOURNAL OF THE NEUROLOGICAL SCIENCES
Volume 380, Issue -, Pages 92-97
Publisher
Elsevier BV
Online
2017-07-09
DOI
10.1016/j.jns.2017.07.011

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