Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene
Abstract
Missense, iso-semantic, and intronic mutations are challenging for interpretation, in particular for their impact in mRNA. Various tools such as the Human Splicing Finder (HSF) system could be used to predict the impact on splicing; however, no diagnosis result could rely on predictions alone, but requires functional testing. Here, we report an in vitro approach to study the impact of DYSF mutations on splicing. It was evaluated on a series of...
Paper Details
Title
Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene
Published Date
Nov 24, 2014
Journal
Volume
35
Issue
12
Pages
1532 - 1541
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