Article
Identification of common genetic variation that modulates alternative splicing.
PLoS genetics - 1 Jun 2007
Hull Jeremy, Campino Susana, Rowlands Kate, Chan Man-Suen, Copley Richard R, Taylor Martin S, Rockett Kirk, Elvidge Gareth, Keating Brendan, Knight Julian, Kwiatkowski Dominic
Abstract excerpt
Alternative splicing of genes is an efficient means of generating variation in protein function. Several disease states have been associated with rare genetic variants that affect splicing patterns. Conversely, splicing efficiency of some genes is known to vary between individuals without apparent ill effects. What is not clear is whether commonly observed phenotypic variation in splicing patterns, and hence...
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