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

Study ID Alternative Stable ID Type
EGAS00000000105 Genotype

Study Description

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.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
DBA case samples using 250K Nsp
Affymetrix_250K(Nsp) - gtype 27

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