A novel variant in the 3′ UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH’s binding

Title
A novel variant in the 3′ UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH’s binding
Authors
Keywords
mRNA Stability, Ketogenic Diet, Reporter Gene Expression, Mutation Construct, SCN1A Gene
Journal
HUMAN GENETICS
Volume 133, Issue 6, Pages 801-811
Publisher
Springer Nature
Online
2014-01-24
DOI
10.1007/s00439-014-1422-8

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