Dataset Information
Cancer Genomics Project DBA Data Access Committee
Ontology highlight
ABSTRACT:
PROVIDER: EGAC01000000005 | EGA |
REPOSITORIES: EGA
Publications
Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia.
Blood 20120118 10
Fifty percent of Diamond-Blackfan anemia (DBA) patients possess mutations in genes coding for ribosomal proteins (RPs). To identify new mutations, we investigated large deletions in the RP genes RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26. We developed an easy method based on quantitative-PCR in which the threshold cycle correlates to gene copy number. Using this approach, we were able to diagnose 7 of 27 Japanese patients (25.9%) possessing mutations that were not detected ...[more]