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Clinical, genetic, and functional characterization of the glycine receptor ß-subunit A455P variant in a family affected by hyperekplexia syndrome.
Aboheimed, Ghada I; AlRasheed, Maha M; Almudimeegh, Sultan; Peña-Guerra, Karla A; Cardona-Londoño, Kelly J; Salih, Mustafa A; Seidahmed, Mohammed Z; Al-Mohanna, Futwan; Colak, Dilek; Harvey, Robert J; Harvey, Kirsten; Arold, Stefan T; Kaya, Namik; Ruiz, Arnaud J.
Afiliación
  • Aboheimed GI; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia; Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Kingdom of Saudi Arabia; Department of Pharmacology, The School
  • AlRasheed MM; Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Kingdom of Saudi Arabia.
  • Almudimeegh S; Department of Pharmacology, The School of Pharmacy, University College London, London, United Kingdom; Department of Pharmacology and Toxicology, College of Pharmacy, King Saud University, Riyadh, Kingdom of Saudi Arabia.
  • Peña-Guerra KA; Computational Bioscience Research Center, King Abdullah University of Science and Technology, Thuwal, Kingdom of Saudi Arabia.
  • Cardona-Londoño KJ; Computational Bioscience Research Center, King Abdullah University of Science and Technology, Thuwal, Kingdom of Saudi Arabia.
  • Salih MA; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia.
  • Seidahmed MZ; Department of Pediatrics, Security Forces Hospital, Riyadh, Kingdom of Saudi Arabia.
  • Al-Mohanna F; Department of Cell Biology, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.
  • Colak D; Department of Molecular Oncology, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.
  • Harvey RJ; School of Health and Behavioural Sciences, University of the Sunshine Coast, Maroochydore, Queensland, Australia; Sunshine Coast Health Institute, Birtinya, Queensland, Australia.
  • Harvey K; Department of Pharmacology, The School of Pharmacy, University College London, London, United Kingdom.
  • Arold ST; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, Montpellier, France.
  • Kaya N; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia. Electronic address: nkaya@kfshrc.edu.sa.
  • Ruiz AJ; Department of Pharmacology, The School of Pharmacy, University College London, London, United Kingdom. Electronic address: a.ruiz@ucl.ac.uk.
J Biol Chem ; 298(7): 102018, 2022 07.
Article en En | MEDLINE | ID: mdl-35526563
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Receptores de Glicina / Hiperekplexia Tipo de estudio: Prognostic_studies Límite: Humans / Newborn Idioma: En Revista: J Biol Chem Año: 2022 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Receptores de Glicina / Hiperekplexia Tipo de estudio: Prognostic_studies Límite: Humans / Newborn Idioma: En Revista: J Biol Chem Año: 2022 Tipo del documento: Article