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Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region.
Ben Ayed, Ikhlas; Jallouli, Olfa; Murakami, Yoshiko; Souissi, Amal; Mallouli, Salma; Bouzid, Amal; Kamoun, Fatma; Elloumi, Ines; Frikha, Fakher; Tlili, Abdelaziz; Weckhuysen, Sarah; Kinoshita, Taroh; Triki, Chahnez Charfi; Masmoudi, Saber.
Afiliación
  • Ben Ayed I; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.
  • Jallouli O; Medical Genetics Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.
  • Murakami Y; Child Neurology Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.
  • Souissi A; Research Laboratory "Neuropédiatrie" LR19ES15, Sfax University, Sfax, Tunisia.
  • Mallouli S; Laboratory of Immunoglycobiology, Research Institute for Microbial Diseases, Osaka University, Suita, Japan.
  • Bouzid A; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.
  • Kamoun F; Child Neurology Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.
  • Elloumi I; Research Laboratory "Neuropédiatrie" LR19ES15, Sfax University, Sfax, Tunisia.
  • Frikha F; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.
  • Tlili A; Child Neurology Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.
  • Weckhuysen S; Research Laboratory "Neuropédiatrie" LR19ES15, Sfax University, Sfax, Tunisia.
  • Kinoshita T; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.
  • Triki CC; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.
  • Masmoudi S; Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.
Front Neurol ; 14: 1092887, 2023.
Article en En | MEDLINE | ID: mdl-36970549
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Texto completo: 1 Bases de datos: MEDLINE Idioma: En Revista: Front Neurol Año: 2023 Tipo del documento: Article País de afiliación: Túnez
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Idioma: En Revista: Front Neurol Año: 2023 Tipo del documento: Article País de afiliación: Túnez