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

William Harbour, Anne Bowcock and colleagues identify recurrent mutations at codon 625 of SF3B1 in uveal melanomas. These mutations occur in low-grade tumors and are associated with favorable prognosis. Uveal melanoma is the most common primary cancer of the eye and often results in fatal metastasis...

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Veröffentlicht in:	Nature genetics 2013-02, Vol.45 (2), p.133-135
Hauptverfasser:	Harbour, J William, Roberson, Elisha D O, Anbunathan, Hima, Onken, Michael D, Worley, Lori A, Bowcock, Anne M
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/2489/144/68 631/208/737 692/699/67/1484 Agriculture Animal Genetics and Genomics Bioinformatics Biomedicine brief-communication Cancer Research Codon Codon - genetics Comparative Genomic Hybridization DNA Copy Number Variations - genetics Gene expression Gene Function Gene mutations Genetic aspects Genetic testing Grants Health aspects Human Genetics Humans Identification and classification Kaplan-Meier Estimate Melanoma Melanoma - genetics Microarray Analysis Mutation Mutation - genetics Phosphoproteins - genetics Phosphoproteins - metabolism Proteins Ribonucleoprotein, U2 Small Nuclear - genetics Ribonucleoprotein, U2 Small Nuclear - metabolism Risk factors RNA Splicing Factors Tumors Uveal Neoplasms - genetics
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