Article
A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors.
Oncogene - 16 Jun 2005
Chen Lei L, Sabripour Mahyar, Wu Elsie F, Prieto Victor G, Fuller Gregory N, Frazier Marsha L
Abstract excerpt
We report a new mechanism of aberrant pre-mRNA splicing resulting in constitutive activation of a mis-spliced oncoprotein (KIT) leading to malignancy (gastrointestinal stromal tumor) in contrast to loss of function of mis-spliced proteins resulting in diverse human diseases in the literature. The mechanisms of three consecutive molecular events, deletion of noncoding and coding regions encompassing the 3'...
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