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Article

A two-step approach for sequencing spliceosome-related genes as a complementary diagnostic assay in MDS patients with ringed sideroblasts.

Leukemia research - 1 May 2017

Janusz Kamila, Del Rey Mónica, Abáigar María, Collado Rosa, Ivars David, Hernández-Sánchez María, Valiente Alberto, Robledo Cristina, Benito Rocío, Díez-Campelo María, Ramos Fernando, Kohlmann Alexander, Cañizo Consuelo Del, Hernández-Rivas Jesús María

Abstract excerpt

Our study aimed to analyze the presence of mutations in SF3B1 and other spliceosome-related genes in myelodysplastic syndromes with ringed sideroblasts (MDS-RS) by combining conventional Sanger and next-generation sequencing (NGS) methods, and to determine the feasibility of this approach in a clinical setting. 122 bone marrow samples from MDS-RS patients were studied. Initially, exons 14 and 15 of the SF3B1 gene...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28222336
DOI: 10.1016/j.leukres.2017.01.031

Genes

SRSF2
ZRSR2

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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