Journal article
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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- Publisher copy:
- 10.1111/j.1365-2141.2008.07178.x
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Bibliographic Details
- 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
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:213647
- UUID:
-
uuid:6e2a8e10-0642-4c70-9144-1c08562ac935
- Local pid:
- pubs:213647
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2008
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