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A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.
Aldosary, Mazhor; Alsagob, Maysoon; AlQudairy, Hanan; González-Álvarez, Ana C; Arold, Stefan T; Dababo, Mohammad Anas; Alharbi, Omar A; Almass, Rawan; AlBakheet, AlBandary; AlSarar, Dalia; Qari, Alya; Al-Ansari, Mysoon M; Oláhová, Monika; Al-Shahrani, Saif A; AlSayed, Moeenaldeen; Colak, Dilek; Taylor, Robert W; AlOwain, Mohammed; Kaya, Namik.
Afiliación
  • Aldosary M; Translational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
  • Alsagob M; Translational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
  • AlQudairy H; Center of Excellence for Biomedicine, Joint Centers for Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi Arabia.
  • González-Álvarez AC; Translational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
  • Arold ST; Bioscience Program, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal 23955-6900, Saudi Arabia.
  • Dababo MA; Computational Biology Research Center, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia.
  • Alharbi OA; Bioscience Program, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal 23955-6900, Saudi Arabia.
  • Almass R; Computational Biology Research Center, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia.
  • AlBakheet A; Centre de Biologie Structurale (CBS), INSERM, CNRS, Université de Montpellier, F-34090 Montpellier, France.
  • AlSarar D; Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
  • Qari A; Radiology Department, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
  • Al-Ansari MM; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
  • Oláhová M; Translational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
  • Al-Shahrani SA; Translational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
  • AlSayed M; Department of Botany and Microbiology, College of Science, King Saud University, Riyadh 11451, Saudi Arabia.
  • Colak D; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
  • Taylor RW; Department of Botany and Microbiology, College of Science, King Saud University, Riyadh 11451, Saudi Arabia.
  • AlOwain M; Department of Molecular Oncology, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
  • Kaya N; Welcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Cells ; 11(19)2022 10 07.
Article en En | MEDLINE | ID: mdl-36231115

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías / Atrofia Óptica Tipo de estudio: Prognostic_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Cells Año: 2022 Tipo del documento: Article País de afiliación: Arabia Saudita

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías / Atrofia Óptica Tipo de estudio: Prognostic_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Cells Año: 2022 Tipo del documento: Article País de afiliación: Arabia Saudita