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Practical challenges for functional validation of STAT1 gain of function genetic variants.
Albuquerque, Adriana S; Maimaris, Jesmeen; McKenna, Alexander J; Lambourne, Jonathan; Moreira, Fernando; Workman, Sarita; Megy, Karyn; Simeoni, Ilenia; Lango Allen, Hana; Morris, Emma C; Burns, Siobhan O.
Affiliation
  • Albuquerque AS; Institute of Immunity and Transplantation, University College London, London, UK.
  • Maimaris J; Institute of Immunity and Transplantation, University College London, London, UK.
  • McKenna AJ; Department of Immunology, Royal Free London NHS Foundation Trust, London, UK.
  • Lambourne J; Institute of Immunity and Transplantation, University College London, London, UK.
  • Moreira F; Department of Infectious Diseases, Royal London Hospital, Barts Health NHS Trust, London, UK.
  • Workman S; Department of Immunology, Royal Free London NHS Foundation Trust, London, UK.
  • Megy K; Department of Immunology, Royal Free London NHS Foundation Trust, London, UK.
  • Simeoni I; NIHR BioResource-Rare Disease Consortium, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK.
  • Lango Allen H; NIHR BioResource-Rare Disease Consortium, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK.
  • Morris EC; Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Clin Exp Immunol ; 212(2): 166-169, 2023 04 25.
Article in En | MEDLINE | ID: mdl-36722341
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Full text: 1 Database: MEDLINE Main subject: Candidiasis, Chronic Mucocutaneous / Gain of Function Mutation Limits: Humans Language: En Journal: Clin Exp Immunol Year: 2023 Type: Article Affiliation country: United kingdom
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Full text: 1 Database: MEDLINE Main subject: Candidiasis, Chronic Mucocutaneous / Gain of Function Mutation Limits: Humans Language: En Journal: Clin Exp Immunol Year: 2023 Type: Article Affiliation country: United kingdom