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Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis.
Shaik, Noor Ahmad; Al-Shehri, Najla; Athar, Mohammad; Awan, Ahmed; Khalili, Mariam; Al Mahadi, Hadiah Bassam; Hejazy, Gehan; Saadah, Omar I; Al-Harthi, Sameer Eida; Elango, Ramu; Banaganapalli, Babajan; Alefishat, Eman; Awan, Zuhier.
Afiliación
  • Shaik NA; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Al-Shehri N; Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Athar M; Department of Clinical Biochemistry, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Awan A; Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia.
  • Khalili M; Science and Technology Unit, Umm Al-Qura University, Makkah, Saudi Arabia.
  • Al Mahadi HB; Department of Clinical Biochemistry, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Hejazy G; Department of Pharmacology, College of Medicine, Khalifa University, Abu Dhabi, United Arab Emirates.
  • Saadah OI; Department of Research and Development, Al Borg Medical Laboratories, Jeddah, Saudi Arabia.
  • Al-Harthi SE; Department of Clinical Biochemistry, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Elango R; Department of Pediatrics, Pediatric Gastroenterology Unit, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Banaganapalli B; Department of Clinical Pharmacology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Alefishat E; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Awan Z; Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
Front Physiol ; 14: 1204018, 2023.
Article en En | MEDLINE | ID: mdl-37469559

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Physiol Año: 2023 Tipo del documento: Article País de afiliación: Arabia Saudita Pais de publicación: Suiza

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Physiol Año: 2023 Tipo del documento: Article País de afiliación: Arabia Saudita Pais de publicación: Suiza