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Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.
Kara, Bülent; Köroglu, Çigdem; Peltonen, Karita; Steinberg, Ruchama C; Maras Genç, Hülya; Hölttä-Vuori, Maarit; Güven, Ayse; Kanerva, Kristiina; Kotil, Tugba; Solakoglu, Seyhun; Zhou, You; Olkkonen, Vesa M; Ikonen, Elina; Laiho, Marikki; Tolun, Aslihan.
Afiliación
  • Kara B; Division of Child Neurology, Department of Paediatrics, Kocaeli University Medical Faculty, Kocaeli, Turkey.
  • Köroglu Ç; Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
  • Peltonen K; Center for Drug Research, University of Helsinki, Helsinki, Finland.
  • Steinberg RC; Cellular and Molecular Medicine Program, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Maras Genç H; Division of Child Neurology, Department of Paediatrics, Kocaeli University Medical Faculty, Kocaeli, Turkey.
  • Hölttä-Vuori M; Faculty of Medicine, Department of Anatomy, University of Helsinki, Helsinki, Finland.
  • Güven A; Minerva Foundation Institute for Medical Research, Helsinki, Finland.
  • Kanerva K; Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
  • Kotil T; Faculty of Medicine, Department of Anatomy, University of Helsinki, Helsinki, Finland.
  • Solakoglu S; Minerva Foundation Institute for Medical Research, Helsinki, Finland.
  • Zhou Y; Department of Histology and Embryology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Olkkonen VM; Department of Histology and Embryology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Ikonen E; Minerva Foundation Institute for Medical Research, Helsinki, Finland.
  • Laiho M; Systems Immunity University Research Institute and Division of Infection and Immunity, School of Medicine, Cardiff University, Cardiff, UK.
  • Tolun A; Faculty of Medicine, Department of Anatomy, University of Helsinki, Helsinki, Finland.
Eur J Hum Genet ; 25(3): 315-323, 2017 02.
Article en En | MEDLINE | ID: mdl-28051070
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxia / ARN Polimerasas Dirigidas por ADN / Discapacidades del Desarrollo / Mutación Missense / Leucoencefalopatías Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2017 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: Ataxia / ARN Polimerasas Dirigidas por ADN / Discapacidades del Desarrollo / Mutación Missense / Leucoencefalopatías Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Reino Unido