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Journal article

Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.

Abstract:

Diamond-Blackfan anaemia (DBA) is caused by inactivating mutations in ribosomal protein (RP) genes, with mutations in 13 of the 80 RP genes accounting for 50-60% of cases. The remaining 40-50% cases may harbour mutations in one of the remaining RP genes, but the very low frequencies render conventional genetic screening as challenging. We, therefore, applied custom enrichment technology combined with high-throughput sequencing to screen all 80 RP genes. Using this approach, we identified and ...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted Manuscript

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Publisher copy:
10.1111/bjh.12397

Authors


Gerrard, G More by this author
Valgañón, M More by this author
Kasperaviciute, D More by this author
Iskander, D More by this author
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Imperial Healthcare Comprehensive Biomedical Research Centre More from this funder
Publisher:
John Wiley and Sons Ltd Publisher's website
Journal:
British journal of haematology Journal website
Volume:
162
Issue:
4
Pages:
530-536
Publication date:
2013-08-05
DOI:
EISSN:
1365-2141
ISSN:
0007-1048
URN:
uuid:295d9226-b26c-42dc-b3c8-82d6e41ffdf4
Source identifiers:
508086
Local pid:
pubs:508086

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