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Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation.
Joyce, Katie E; Onabanjo, Ebun; Brownlow, Sheila; Nur, Fadumo; Olupona, Kike; Fakayode, Kehinde; Sroya, Manveer; Thomas, Geraldine A; Ferguson, Teena; Redhead, Julian; Millar, Carolyn M; Cooper, Nichola; Layton, D Mark; Boardman-Pretty, Freya; Caulfield, Mark J; Shovlin, Claire L.
Afiliação
  • Joyce KE; Imperial College School of Medicine, Imperial College, London, United Kingdom.
  • Onabanjo E; Genomics England Respiratory Clinical Interpretation Partnership (GeCIP), London, United Kingdom.
  • Brownlow S; West London Genomic Medicine Centre, Imperial College Healthcare NHS Trust, London, United Kingdom.
  • Nur F; West London Genomic Medicine Centre, Imperial College Healthcare NHS Trust, London, United Kingdom.
  • Olupona K; West London Genomic Medicine Centre, Imperial College Healthcare NHS Trust, London, United Kingdom.
  • Fakayode K; West London Genomic Medicine Centre, Imperial College Healthcare NHS Trust, London, United Kingdom.
  • Sroya M; West London Genomic Medicine Centre, Imperial College Healthcare NHS Trust, London, United Kingdom.
  • Thomas GA; Department of Surgery and Cancer, Imperial College, London, United Kingdom.
  • Ferguson T; Department of Surgery and Cancer, Imperial College, London, United Kingdom.
  • Redhead J; West London Genomic Medicine Centre, Imperial College Healthcare NHS Trust, London, United Kingdom.
  • Millar CM; West London Genomic Medicine Centre, Imperial College Healthcare NHS Trust, London, United Kingdom.
  • Cooper N; West London Genomic Medicine Centre, Imperial College Healthcare NHS Trust, London, United Kingdom.
  • Layton DM; Centre for Haematology, Department of Immunology and Inflammation, Imperial College, London, United Kingdom.
  • Boardman-Pretty F; West London Genomic Medicine Centre, Imperial College Healthcare NHS Trust, London, United Kingdom.
  • Caulfield MJ; Centre for Haematology, Department of Immunology and Inflammation, Imperial College, London, United Kingdom.
  • Shovlin CL; Centre for Haematology, Department of Immunology and Inflammation, Imperial College, London, United Kingdom.
Blood Adv ; 6(13): 3956-3969, 2022 07 12.
Article em En | MEDLINE | ID: mdl-35316832

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Telangiectasia Hemorrágica Hereditária Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Telangiectasia Hemorrágica Hereditária Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article