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Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis.
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.
Afiliação
  • Clark B; Department of Molecular Pathology, Viapath at King's College Hospital NHS Foundation Trust, London, UK.
  • Shooter C; Molecular Haematology, Division of Cancer Studies, King's College London, London, UK.
  • Smith F; Molecular Haematology, Division of Cancer Studies, King's College London, London, UK.
  • Brawand D; Department of Molecular Pathology, Viapath at King's College Hospital NHS Foundation Trust, London, UK.
  • Steedman L; Department of Molecular Pathology, Viapath at King's College Hospital NHS Foundation Trust, London, UK.
  • Oakley M; Department of Molecular Pathology, Viapath at King's College Hospital NHS Foundation Trust, London, UK.
  • Rushton P; Department of Molecular Pathology, Viapath at King's College Hospital NHS Foundation Trust, London, UK.
  • Rooks H; Department of Molecular Pathology, Viapath at King's College Hospital NHS Foundation Trust, London, UK.
  • Wang X; Molecular Haematology, Division of Cancer Studies, King's College London, London, UK.
  • Drousiotou A; Sickle Cell Branch, National Heart, Lung and Blood Institute/NIH, Bethesda, MD, USA.
  • Kyrri A; Thalassaemia Centre, Nicosia, Cyprus.
  • Hadjigavriel M; Thalassaemia Centre, Nicosia, Cyprus.
  • Will A; Thalassaemia Centre, Nicosia, Cyprus.
  • Fisher C; Paediatric Haematology, Royal Manchester Children's Hospital, Manchester, UK.
  • Higgs DR; MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Phylipsen M; MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Harteveld C; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
  • Kleanthous M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
  • Thein SL; The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Br J Haematol ; 180(1): 160-164, 2018 01.
Article em En | MEDLINE | ID: mdl-27469621
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Família Multigênica / Talassemia beta / Duplicação Gênica / Padrões de Herança / Alfa-Globinas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Família Multigênica / Talassemia beta / Duplicação Gênica / Padrões de Herança / Alfa-Globinas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article