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RECENT ADVANCES IN THE 5Q- SYNDROME

20 May 2015

Abstract excerpt

The 5q- syndrome is the most distinct of the myelodysplastic syndromes (MDS) and patients with this disorder have a deletion of chromosome 5q [del(5q)] as the sole karyotypic abnormality. Several genes mapping to the commonly deleted region of the 5q- syndrome have been implicated in disease pathogenesis in recent years. Haploinsufficiency of the ribosomal gene RPS14 has been shown to cause the erythroid defect...

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PMID: 26075044
DOI: 10.4084/mjhid.2015.037

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