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Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4.
Collopy, Laura C; Walne, Amanda J; Vulliamy, Tom J; Dokal, Inderjeet S.
Afiliação
  • Collopy LC; Centre for Paediatrics, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London.
  • Walne AJ; Centre for Paediatrics, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London.
  • Vulliamy TJ; Centre for Paediatrics, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London t.vulliamy@qmul.ac.uk.
  • Dokal IS; Centre for Paediatrics, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London Barts Health NHS Trust, London, UK.
Haematologica ; 99(7): e109-11, 2014 Jul.
Article em En | MEDLINE | ID: mdl-24763404

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Recombinases / Hemoglobinúria Paroxística / Anemia Aplástica Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Haematologica Ano de publicação: 2014 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Recombinases / Hemoglobinúria Paroxística / Anemia Aplástica Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Haematologica Ano de publicação: 2014 Tipo de documento: Article