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Haploinsufficiency of RPS14 in 5q- syndrome is associated with deregulation of ribosomal- and translation-related genes.

Abstract:

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 analogy with DBA, we have investigated the expression profiles of a large group o...

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Publication status:
Published

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Journal:
British journal of haematology
Volume:
142
Issue:
1
Pages:
57-64
Publication date:
2008-07-01
DOI:
EISSN:
1365-2141
ISSN:
0007-1048
Source identifiers:
213647
Language:
English
Keywords:
Pubs id:
pubs:213647
UUID:
uuid:6e2a8e10-0642-4c70-9144-1c08562ac935
Local pid:
pubs:213647
Deposit date:
2012-12-19

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