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Identification of splicing defects caused by mutations in the dysferlin gene.

Human mutation - 1 Dec 2014

Kergourlay Virginie, Raï Ghadi, Blandin Gaëlle, Salgado David, Béroud Christophe, Lévy Nicolas, Krahn Martin, Bartoli Marc

Abstract excerpt

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....

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Identifiers

PMID: 25312915
DOI: 10.1002/humu.22710

Genes

DYSF

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