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Rare and private spliceosomal gene mutations drive partial, complete, and dual phenocopies of hotspot alterations
Genes encoding the RNA splicing factors SF3B1, SRSF2, and U2AF1 are subject to frequent missense mutations in clonal hematopoiesis and diverse neoplastic diseases. Most “spliceosomal” mutations affect specific hotspot residues, resulting in splicing changes that promote disease pathophysiology. Howe...
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| Publicado no: | Blood |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society of Hematology
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7099330/ https://ncbi.nlm.nih.gov/pubmed/31961934 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood.2019002894 |
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