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A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.
Al-Shekaili, Hilal H; Petkau, Terri L; Pena, Izabella; Lengyell, Tess C; Verhoeven-Duif, Nanda M; Ciapaite, Jolita; Bosma, Marjolein; van Faassen, Martijn; Kema, Ido P; Horvath, Gabriella; Ross, Colin; Simpson, Elizabeth M; Friedman, Jan M; van Karnebeek, Clara; Leavitt, Blair R.
Afiliación
  • Al-Shekaili HH; British Columbia Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Petkau TL; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Pena I; Whitehead Institute for Biomedical Research, Cambridge, MA 02142, USA.
  • Lengyell TC; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Verhoeven-Duif NM; Department of Genetics, University Medical Center, Utrecht, The Netherlands.
  • Ciapaite J; Department of Genetics, University Medical Center, Utrecht, The Netherlands.
  • Bosma M; Department of Genetics, University Medical Center, Utrecht, The Netherlands.
  • van Faassen M; Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Kema IP; Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Horvath G; Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.
  • Ross C; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada.
  • Simpson EM; British Columbia Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Friedman JM; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • van Karnebeek C; British Columbia Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Leavitt BR; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Hum Mol Genet ; 29(19): 3266-3284, 2020 11 25.
Article en En | MEDLINE | ID: mdl-32969477
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Piridoxina / Conducta Animal / Modelos Animales de Enfermedad / Aldehído Deshidrogenasa / Epilepsia / Lisina / Mutación Límite: Animals Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Canadá
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Piridoxina / Conducta Animal / Modelos Animales de Enfermedad / Aldehído Deshidrogenasa / Epilepsia / Lisina / Mutación Límite: Animals Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Canadá