Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse

Spinal muscular atrophy is caused by loss of the SMN1 gene and retention of SMN2. The SMN2 copy number inversely correlates with phenotypic severity and is a modifier of disease outcome. The SMN2 gene essentially differs from SMN1 by a single nucleotide in exon 7 that modulates the incorporation of...

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Udgivet i:PLoS One
Main Authors: McGovern, Vicki L., Massoni-Laporte, Aurélie, Wang, Xueyong, Le, Thanh T., Le, Hao T., Beattie, Christine E., Rich, Mark M., Burghes, Arthur H. M.
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2015
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4489873/
https://ncbi.nlm.nih.gov/pubmed/26134627
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0132364
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