Article
Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse.
PloS one - 1 Jan 2015
McGovern Vicki L, Massoni-Laporte Aurélie, Wang Xueyong, Le Thanh T, Le Hao T, Beattie Christine E, Rich Mark M, Burghes Arthur H M
Abstract excerpt
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 exon 7 into the final SMN transcript. The majority of the SMN2 transcripts lack exon 7 and this leads to a SMN...
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