Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.
dc.contributor.author | Westbury, Sarah K | |
dc.contributor.author | Downes, Kate | |
dc.contributor.author | Burney, Claire | |
dc.contributor.author | Lozano, Maria L | |
dc.contributor.author | Obaji, Samya G | |
dc.contributor.author | Toh, Cheng Hock | |
dc.contributor.author | Sevivas, Teresa | |
dc.contributor.author | Morgan, Neil V | |
dc.contributor.author | Erber, Wendy N | |
dc.contributor.author | Kempster, Carly | |
dc.contributor.author | Moore, Samantha F | |
dc.contributor.author | Thys, Chantal | |
dc.contributor.author | Papadia, Sofia | |
dc.contributor.author | Ouwehand, Willem H | |
dc.contributor.author | NIHR BioResource–Rare Diseases | |
dc.contributor.author | Laffan, Michael A | |
dc.contributor.author | Gomez, Keith | |
dc.contributor.author | Freson, Kathleen | |
dc.contributor.author | Rivera, Jose | |
dc.contributor.author | Mumford, Andrew D | |
dc.date.accessioned | 2018-11-23T00:32:36Z | |
dc.date.available | 2018-11-23T00:32:36Z | |
dc.date.issued | 2018-09-25 | |
dc.identifier.issn | 2473-9529 | |
dc.identifier.uri | https://www.repository.cam.ac.uk/handle/1810/285825 | |
dc.description.abstract | DIAPH1-related disorder has a bilineage hematological phenotype of macrothrombocytopenia and neutropenia associated with hearing loss. Eltrombopag increased proplatelet formation from cultured DIAPH1-related disorder megakaryocytes and improved platelet counts in vivo. | |
dc.format.medium | ||
dc.language | eng | |
dc.publisher | American Society of Hematology | |
dc.subject | NIHR BioResource–Rare Diseases | |
dc.subject | Humans | |
dc.subject | Thrombocytopenia | |
dc.subject | Adaptor Proteins, Signal Transducing | |
dc.subject | Pedigree | |
dc.subject | Signal Transduction | |
dc.subject | Phenotype | |
dc.subject | Adolescent | |
dc.subject | Adult | |
dc.subject | Aged | |
dc.subject | Middle Aged | |
dc.subject | Child | |
dc.subject | Child, Preschool | |
dc.subject | Female | |
dc.subject | Male | |
dc.subject | Receptors, Thrombopoietin | |
dc.subject | Young Adult | |
dc.subject | Genetic Association Studies | |
dc.subject | Biomarkers | |
dc.subject | Formins | |
dc.title | Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder. | |
dc.type | Article | |
prism.endingPage | 2346 | |
prism.issueIdentifier | 18 | |
prism.publicationDate | 2018 | |
prism.publicationName | Blood Adv | |
prism.startingPage | 2341 | |
prism.volume | 2 | |
dc.identifier.doi | 10.17863/CAM.33169 | |
dcterms.dateAccepted | 2018-08-01 | |
rioxxterms.versionofrecord | 10.1182/bloodadvances.2018020370 | |
rioxxterms.licenseref.uri | http://www.rioxx.net/licenses/all-rights-reserved | |
rioxxterms.licenseref.startdate | 2018-09 | |
dc.contributor.orcid | Westbury, Sarah K [0000-0002-0950-8148] | |
dc.contributor.orcid | Papadia, Sofia [0000-0002-9222-3812] | |
dc.contributor.orcid | Gomez, Keith [0000-0002-8934-0700] | |
dc.identifier.eissn | 2473-9537 | |
rioxxterms.type | Journal Article/Review | |
cam.issuedOnline | 2018-09-19 | |
rioxxterms.freetoread.startdate | 2019-09-30 |
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