Article
Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
Human mutation - 1 Dec 2004
Zatkova Andrea, Messiaen Ludwine, Vandenbroucke Ina, Wieser Rotraud, Fonatsch Christa, Krainer Adrian R, Wimmer Katharina
Abstract excerpt
Nonsense, missense, and even silent mutation-associated exon skipping is recognized in an increasing number of genes as a novel form of splicing mutation. The analysis of individual mutations of this kind can shed light on basic pre-mRNA splicing mechanisms. Using cDNA-based mutation detection analysis, we have identified one missense and six nonsense mutations that lead to different extents of exon-lacking...
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