Article

The Genetic Landscape of Diamond-Blackfan Anemia

2018-07-10

Abstract excerpt

<h4>ABSTRACT</h4> Diamond-Blackfan anemia (DBA) is a rare bone marrow failure disorder that affects 1 in 100,000 to 200,000 live births and has been associated with mutations in components of the ribosome. In order to characterize the genetic landscape of this genetically heterogeneous disorder, we recruited a cohort of 472 individuals with a clinical diagnosis of DBA and performed whole exome sequencing (WES). O...

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Literature Corpus work: 1ff7fb7d-1cb1-5f1e-bc7d-8f9f03204ba3
DOI: 10.1101/365890

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