Study
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.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
Dataset ID | Description | Technology | Samples |
---|---|---|---|
EGAD00010000096 |
DBA case samples using 250K Nsp
|
Affymetrix_250K(Nsp) - gtype | 27 |
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