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Clinical and molecular characterization of the R751L-CFTR mutation.
Haq, Iram J; Althaus, Mike; Gardner, Aaron Ions; Yeoh, Hui Ying; Joshi, Urjita; Saint-Criq, Vinciane; Verdon, Bernard; Townshend, Jennifer; O'Brien, Christopher; Ben-Hamida, Mahfud; Thomas, Matthew; Bourke, Stephen; van der Sluijs, Peter; Braakman, Ineke; Ward, Chris; Gray, Michael A; Brodlie, Malcolm.
Afiliação
  • Haq IJ; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Althaus M; Paediatric Respiratory Medicine, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.
  • Gardner AI; Institute for Functional Gene Analytics, Department of Natural Sciences, Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany.
  • Yeoh HY; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Joshi U; Cellular Protein Chemistry, Science4Life, Faculty of Science, Utrecht University, Utrecht, The Netherlands.
  • Saint-Criq V; Cellular Protein Chemistry, Science4Life, Faculty of Science, Utrecht University, Utrecht, The Netherlands.
  • Verdon B; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Townshend J; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • O'Brien C; Paediatric Respiratory Medicine, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.
  • Ben-Hamida M; Paediatric Respiratory Medicine, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.
  • Thomas M; Department of Paediatrics, West Cumberland Hospital, Whitehaven, United Kingdom.
  • Bourke S; Paediatric Respiratory Medicine, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.
  • van der Sluijs P; Respiratory Medicine, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom.
  • Braakman I; Cellular Protein Chemistry, Science4Life, Faculty of Science, Utrecht University, Utrecht, The Netherlands.
  • Ward C; Cellular Protein Chemistry, Science4Life, Faculty of Science, Utrecht University, Utrecht, The Netherlands.
  • Gray MA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Brodlie M; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.
Am J Physiol Lung Cell Mol Physiol ; 320(2): L288-L300, 2021 02 01.
Article em En | MEDLINE | ID: mdl-33296276

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Brônquios / Cloreto de Sódio / Regulador de Condutância Transmembrana em Fibrose Cística / Mutação de Sentido Incorreto / Fibrose Cística / Células Epiteliais Limite: Animals / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Brônquios / Cloreto de Sódio / Regulador de Condutância Transmembrana em Fibrose Cística / Mutação de Sentido Incorreto / Fibrose Cística / Células Epiteliais Limite: Animals / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article