The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.

The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.

Costello syndrome (CS) may be caused by activating mutations in codon 12/13 of the HRAS proto-oncogene. HRAS p.Gly12Val mutations have the highest transforming activity, are very frequent in cancers, but very rare in CS, where they are reported to cause a severe, early lethal, phenotype. We identifi...

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Bibliographic Details
Main Authors: Anne-Mette Hartung, Jeff Swensen, Inaki E Uriz, Morten Lapin, Karen Kristjansdottir, Ulrika S S Petersen, Jeanne Mari V Bang, Barbara Guerra, Henriette Skovgaard Andersen, Steven F Dobrowolski, John C Carey, Ping Yu, Cecily Vaughn, Amy Calhoun, Martin R Larsen, Lars Dyrskjøt, David A Stevenson, Brage S Andresen
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-05-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC4873146?pdf=render

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http://europepmc.org/articles/PMC4873146?pdf=render

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