Copy number analysis of Diamond-Blackfan Anemia (DBA) using SNP array

ABSTRACT: Diamond–Blackfan anemia (DBA), is a rare congenital anemia that usually presents in infancy. About fifty percent of DBA patients possess mutations in ribosomal protains (RPs). In this study, we performed genomic copy number analysis using SNP arrays for 27 Japanese DBA patients to detect genomic copy number lesions of the RP genes' loci.

PROVIDER: EGAS00000000105 | EGA |

REPOSITORIES: EGA