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Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.
Sahin, Yavuz; Güngör, Olcay; Gormez, Zeliha; Demirci, Huseyin; Ergüner, Bekir; Güngör, Gülay; Dilber, Cengiz.
Afiliación
  • Sahin Y; Department of Medical Genetics, Necip Fazil City Hospital, Kahramanmaras, 46050, Turkey. mdysahin@gmail.com.
  • Güngör O; Department of Child Neurology, Necip Fazil City Hospital, Kahramanmaras, Turkey.
  • Gormez Z; Advanced Genomics and Bioinformatics Research Center (IGBAM), The Scientific and Technological Research Council of Turkey (TUBITAK-BILGEM), Kocaeli, Turkey.
  • Demirci H; Advanced Genomics and Bioinformatics Research Center (IGBAM), The Scientific and Technological Research Council of Turkey (TUBITAK-BILGEM), Kocaeli, Turkey.
  • Ergüner B; Advanced Genomics and Bioinformatics Research Center (IGBAM), The Scientific and Technological Research Council of Turkey (TUBITAK-BILGEM), Kocaeli, Turkey.
  • Güngör G; Department of Radiology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey.
  • Dilber C; Department of Pediatric Neurology, Marash Life Hospital, Kahramanmaras, Turkey.
Acta Neurol Belg ; 117(1): 159-167, 2017 Mar.
Article en En | MEDLINE | ID: mdl-27844444
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Exoma / Proteínas de la Membrana / Mutación / Lipofuscinosis Ceroideas Neuronales Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Acta Neurol Belg Año: 2017 Tipo del documento: Article País de afiliación: Turquía
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Exoma / Proteínas de la Membrana / Mutación / Lipofuscinosis Ceroideas Neuronales Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Acta Neurol Belg Año: 2017 Tipo del documento: Article País de afiliación: Turquía