Article
Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.
Human mutation - 1 Feb 2007
Krawczak Michael, Thomas Nick S T, Hundrieser Bernd, Mort Matthew, Wittig Michael, Hampe Jochen, Cooper David N
Abstract excerpt
Although single base-pair substitutions in splice junctions constitute at least 10% of all mutations causing human inherited disease, the factors that determine their phenotypic consequences at the RNA level remain to be fully elucidated. Employing a neural network for splice-site recognition, we performed a meta-analysis of 478 disease-associated splicing mutations, in 38 different genes, for which detailed...
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