Philip J Mason1, Monica Bessler. Show Affiliations » 1. Pediatric and Adult Comprehensive Bone Marrow Failure Center, The Children's Hospital of Philadelphia, USA.
Abstract
Entities: Disease
Mesh: See more » HumansMutationNeutropenia/geneticsPhosphoric Diester Hydrolases/geneticsRNA, Small Nuclear/geneticsSkin Abnormalities/genetics
Substances: See more » RNA, Small NuclearU6 small nuclear RNAPhosphoric Diester HydrolasesUSB1 protein, human
Year: 2013 PMID: 23393019 DOI: 10.1182/blood-2012-12-471367
Source DB: PubMed Journal: Blood ISSN: 0006-4971 Impact factor: 22.113