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Open Access
Peer-reviewed
Research Article
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer
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Anne-Mette Hartung ,
Contributed equally to this work with: Anne-Mette Hartung, Jeff Swensen, Inaki E. Uriz
Affiliation Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark
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Jeff Swensen ,
Contributed equally to this work with: Anne-Mette Hartung, Jeff Swensen, Inaki E. Uriz
Affiliations Caris Life Sciences, Phoenix, Arizona, United States of America, Department of Pathology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States of America, ARUP Laboratories, Salt Lake City, Utah, United States of America
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Inaki E. Uriz ,
Contributed equally to this work with: Anne-Mette Hartung, Jeff Swensen, Inaki E. Uriz
Affiliation Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark
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Morten Lapin,
Affiliation Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark
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Karen Kristjansdottir,
Affiliation Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark
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Ulrika S. S. Petersen,
Affiliation Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark
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Jeanne Mari V. Bang,
Affiliation Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark
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Barbara Guerra,
Affiliation Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark
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Henriette Skovgaard Andersen,
Affiliation Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark
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Steven F. Dobrowolski,
Affiliation Department of Pathology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States of America
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John C. Carey,
Affiliation Department of Pediatrics, University of Utah, Salt Lake City, Utah, United States of America
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Ping Yu,
Affiliation ARUP Laboratories, Salt Lake City, Utah, United States of America
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Cecily Vaughn,
Affiliation ARUP Laboratories, Salt Lake City, Utah, United States of America
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Amy Calhoun,
Affiliation Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, United States of America
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Martin R. Larsen,
Affiliation Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark
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Lars Dyrskjøt,
Affiliation Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
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David A. Stevenson,
Affiliation Division of Medical Genetics, Stanford University, Stanford, California, United States of America
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Brage S. Andresen
* E-mail: bragea@bmb.sdu.dk
Affiliation Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark
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The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer
- 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
- Published: May 19, 2016
- https://doi.org/10.1371/journal.pgen.1006039