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Article

Haploinsufficiency of <i>RPS14</i> in 5q− syndrome is associated with deregulation of ribosomal‐ and translation‐related genes

8 May 2008

Abstract excerpt

We have previously demonstrated haploinsufficiency of the ribosomal gene RPS14, which is required for the maturation of 40S ribosomal subunits and maps to the commonly deleted region, in the 5q- syndrome. Patients with Diamond-Blackfan anaemia (DBA) show haploinsufficiency of the closely related ribosomal protein RPS19, and show a consequent downregulation of multiple ribosomal- and translation-related genes. By...

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PMID: 18477045
DOI: 10.1111/j.1365-2141.2008.07178.x

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Haploinsufficiency of <i>RPS14</i> in 5q− syndrome is associated with deregulation of ribosomal‐ and translation‐related genesPMID 18477045Read ↗

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