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Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma

Uveal melanoma is the most common primary cancer of the eye and often results in fatal metastasis. Here, we describe mutations occurring exclusively at arginine-625 in splicing factor 3B subunit 1 (SF3B1) in low-grade uveal melanomas with good prognosis. Thus, uveal melanoma is among a small group o...

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Autores principales: Harbour, J. William, Roberson, Elisha D. O., Anbunathan, Hima, Onken, Michael D., Worley, Lori A., Bowcock, Anne M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3789378/
https://www.ncbi.nlm.nih.gov/pubmed/23313955
http://dx.doi.org/10.1038/ng.2523
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author Harbour, J. William
Roberson, Elisha D. O.
Anbunathan, Hima
Onken, Michael D.
Worley, Lori A.
Bowcock, Anne M.
author_facet Harbour, J. William
Roberson, Elisha D. O.
Anbunathan, Hima
Onken, Michael D.
Worley, Lori A.
Bowcock, Anne M.
author_sort Harbour, J. William
collection PubMed
description Uveal melanoma is the most common primary cancer of the eye and often results in fatal metastasis. Here, we describe mutations occurring exclusively at arginine-625 in splicing factor 3B subunit 1 (SF3B1) in low-grade uveal melanomas with good prognosis. Thus, uveal melanoma is among a small group of cancers associated with SF3B1 mutation, and these mutations denote a distinct molecular subset of uveal melanomas.
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spelling pubmed-37893782013-10-03 Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma Harbour, J. William Roberson, Elisha D. O. Anbunathan, Hima Onken, Michael D. Worley, Lori A. Bowcock, Anne M. Nat Genet Article Uveal melanoma is the most common primary cancer of the eye and often results in fatal metastasis. Here, we describe mutations occurring exclusively at arginine-625 in splicing factor 3B subunit 1 (SF3B1) in low-grade uveal melanomas with good prognosis. Thus, uveal melanoma is among a small group of cancers associated with SF3B1 mutation, and these mutations denote a distinct molecular subset of uveal melanomas. 2013-01-13 2013-02 /pmc/articles/PMC3789378/ /pubmed/23313955 http://dx.doi.org/10.1038/ng.2523 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
Harbour, J. William
Roberson, Elisha D. O.
Anbunathan, Hima
Onken, Michael D.
Worley, Lori A.
Bowcock, Anne M.
Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma
title Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma
title_full Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma
title_fullStr Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma
title_full_unstemmed Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma
title_short Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma
title_sort recurrent mutations at codon 625 of the splicing factor sf3b1 in uveal melanoma
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3789378/
https://www.ncbi.nlm.nih.gov/pubmed/23313955
http://dx.doi.org/10.1038/ng.2523
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