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Article

Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis.

Blood - 5 Apr 2012

Makishima Hideki, Visconte Valeria, Sakaguchi Hirotoshi, Jankowska Anna M, Abu Kar Sarah, Jerez Andres, Przychodzen Bartlomiej, Bupathi Manoj, Guinta Kathryn, Afable Manuel G, Sekeres Mikkael A, Padgett Richard A, Tiu Ramon V, Maciejewski Jaroslaw P

Abstract excerpt

Myelodysplastic syndromes (MDSs) are chronic and often progressive myeloid neoplasms associated with remarkable heterogeneity in the histomorphology and clinical course. Various somatic mutations are involved in the pathogenesis of MDS. Recently, mutations in a gene encoding a spliceosomal protein, SF3B1, were discovered in a distinct form of MDS with ring sideroblasts. Whole exome sequencing of 15 patients with...

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Share to Leukemia, Myeloid
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ribonucleoprotein, U2 Small Nuclear

Share to Ribonucleoproteins

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Share to Serine-Arginine Splicing Factors

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Source

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Identifiers

PMID: 22323480
DOI: 10.1182/blood-2011-12-399774
PMCID: PMC3321850

Genes

SRSF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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