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Article

SF3B1-initiating mutations in MDS-RSs target lymphomyeloid hematopoietic stem cells.

Blood - 17 Aug 2017

Mortera-Blanco Teresa, Dimitriou Marios, Woll Petter S, Karimi Mohsen, Elvarsdottir Edda, Conte Simona, Tobiasson Magnus, Jansson Monika, Douagi Iyadh, Moarii Matahi, Saft Leonie, Papaemmanuil Elli, Jacobsen Sten Eirik W, Hellström-Lindberg Eva

Abstract excerpt

Mutations in the RNA splicing gene SF3B1 are found in >80% of patients with myelodysplastic syndrome with ring sideroblasts (MDS-RS). We investigated the origin of SF3B1 mutations within the bone marrow hematopoietic stem and progenitor cell compartments in patients with MDS-RS. Screening for recurrently mutated genes in the mononuclear cell fraction revealed mutations in SF3B1 in 39 of 40 cases (97.5%), combined...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28634182
DOI: 10.1182/blood-2017-03-776070
PMCID: PMC5572789

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TET2

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