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Clinical whole exome sequencing revealed de novo heterozygous stop-gain and missense variants in the STXBP1 gene associated with epilepsy in Saudi families.
Naseer, Muhammad Imran; Abdulkareem, Angham Abdulrhman; Rasool, Mahmood; Shirah, Bader; Algahtani, Hussein; Muthaffar, Osama Y; Pushparaj, Peter Natesan.
Afiliação
  • Naseer MI; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Abdulkareem AA; Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Rasool M; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Shirah B; Faculty of Science, Department of Biochemistry, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Algahtani H; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Muthaffar OY; Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Pushparaj PN; Department of Neuroscience, King Faisal Specialist Hospital & Research Centre, Jeddah, Saudi Arabia.
Saudi J Biol Sci ; 29(7): 103309, 2022 Jul.
Article em En | MEDLINE | ID: mdl-35663845
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: Saudi J Biol Sci Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Arábia Saudita
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: Saudi J Biol Sci Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Arábia Saudita