Article
Analysis of mutations that influence pre-mRNA splicing.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2011
Zhang Zhaiyi, Stamm Stefan
Abstract excerpt
A rapidly increasing number of human diseases are now recognized as being caused by the selection of wrong splice sites. In most cases, these changes in alternative splice site selection are due to single nucleotide exchanges in splicing regulatory elements. This chapter describes the use of bioinformatics tools to predict the influence of a mutation on alternative pre-mRNA splicing and the experimental testing...
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