A rareSMN2variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

Title
A rareSMN2variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 31, Issue 1, Pages E1110-E1125
Publisher
Wiley
Online
2009-12-02
DOI
10.1002/humu.21173

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