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The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.
Haryanyan, Garen; Ozdemir, Ozkan; Tutkavul, Kemal; Dervent, Aysin; Ayta, Semih; Ozkara, Cigdem; Salman, Baris; Yucesan, Emrah; Kesim, Yesim; Susgun, Seda; Ozbek, Ugur; Baykan, Betul; Ugur Iseri, Sibel A; Bebek, Nerses.
Afiliación
  • Haryanyan G; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
  • Ozdemir O; Graduate School of Health Sciences, Istanbul University, Istanbul, Turkey.
  • Tutkavul K; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
  • Dervent A; Graduate School of Health Sciences, Istanbul University, Istanbul, Turkey.
  • Ayta S; Department of Medical Genetics, Faculty of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.
  • Ozkara C; Genome Studies Program, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.
  • Salman B; Department of Neurology, Istanbul Haydarpasa Numune Education and Research Hospital, University of Health Sciences, Istanbul, Turkey.
  • Yucesan E; Department of Neurology, Pediatric Neurology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Kesim Y; Department of Pediatrics, Child Neurology Unit, Haseki Training and Research Hospital, Istanbul, Turkey.
  • Susgun S; Department of Neurology and Clinical Neurophysiology, Cerrahpasa Medical Faculty, Istanbul University Cerrahpasa, Istanbul, Turkey.
  • Ozbek U; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
  • Baykan B; Graduate School of Health Sciences, Istanbul University, Istanbul, Turkey.
  • Ugur Iseri SA; Department of Medical Biology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey.
  • Bebek N; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
J Hum Genet ; 66(12): 1145-1151, 2021 Dec.
Article en En | MEDLINE | ID: mdl-34117373
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Predisposición Genética a la Enfermedad / Enfermedad de Lafora / Ubiquitina-Proteína Ligasas / Alelos / Estudios de Asociación Genética Tipo de estudio: Prognostic_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Predisposición Genética a la Enfermedad / Enfermedad de Lafora / Ubiquitina-Proteína Ligasas / Alelos / Estudios de Asociación Genética Tipo de estudio: Prognostic_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Reino Unido