Journal article icon

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...

Expand abstract
Publication status:
Published

Actions


Access Document


Authors


Expand authors...
Journal:
British journal of haematology
Volume:
142
Issue:
1
Pages:
57-64
Publication date:
2008-07-05
DOI:
EISSN:
1365-2141
ISSN:
0007-1048
URN:
uuid:6e2a8e10-0642-4c70-9144-1c08562ac935
Source identifiers:
213647
Local pid:
pubs:213647

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP