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- Title
Mutations in the RNA splicing machinery genes in myelofibrotic transformation of essential thrombocythaemia and polycythaemia vera.
- Authors
Martínez‐Avilés, Luz; Besses, Carles; Álvarez‐Larrán, Alberto; Camacho, Laura; Pairet, Silvia; Fernández‐Rodríguez, Concepción; Serrano, Sergi; Bellosillo, Beatriz
- Abstract
The article focuses on the analysis of mutations in messenger RNA splicing machinery genes such as SF3B1, SRSF2 and U2AF1 which have been identified in lymphoid and myeloid haematopoietic malignancies. Topics discussed include determination of SF3B1 gene modifications in thrombocythaemia and primary myelofibrosis, analysis of mutations in patients with polycythaemia vera disease, and use of polymerase chain reaction amplification and Sanger sequencing in the analysis of mutations.
- Subjects
GENETIC mutation; MESSENGER RNA; MYELOID leukemia; LYMPHOCYTIC leukemia; POLYMERASE chain reaction; NUCLEOTIDE sequence; GENETICS
- Publication
British Journal of Haematology, 2014, Vol 164, Issue 4, p605
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/bjh.12647