Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis.
作者信息
Clark Barnaby, Shooter Claire, Smith Frances, Brawand David, Steedman Laura, Oakley Matthew, Rushton Peter, Rooks Helen, Wang Xunde, Drousiotou Anthi, Kyrri Andriani, Hadjigavriel Michael, Will Andrew, Fisher Chris, Higgs Douglas R, Phylipsen Marion, Harteveld Cornelis, Kleanthous Marina, Thein Swee Lay
机构信息
Department of Molecular Pathology, Viapath at King's College Hospital NHS Foundation Trust, London, UK.
Molecular Haematology, Division of Cancer Studies, King's College London, London, UK.
出版信息
Br J Haematol. 2018 Jan;180(1):160-164. doi: 10.1111/bjh.14294. Epub 2016 Jul 29.
PMID:27469621
Abstract
摘要
Zotero 插件