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A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia.
Heinonen, Tiina; Flegel, Thomas; Müller, Hanna; Kehl, Alexandra; Hundi, Sruthi; Matiasek, Kaspar; Fischer, Andrea; Donner, Jonas; Forman, Oliver P; Lohi, Hannes; Hytönen, Marjo K.
Afiliación
  • Heinonen T; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
  • Flegel T; Folkhälsan Research Center, Helsinki, Finland.
  • Müller H; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.
  • Kehl A; Department of Small Animals, Leipzig University, Leipzig, Germany.
  • Hundi S; Tieraerztliches Fachzentrum Muehlhausen Dr. Ortmann & Dr. Stief, Muehlhausen/Thueringen, Germany.
  • Matiasek K; Laboklin GmbH&CO.KG, Bad Kissingen, Germany.
  • Fischer A; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
  • Donner J; Folkhälsan Research Center, Helsinki, Finland.
  • Forman OP; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.
  • Lohi H; Section of Clinical and Comparative Neuropathology, Institute of Veterinary Pathology, Centre for Clinical Veterinary Medicine, LMU Munich, Munich, Germany.
  • Hytönen MK; Clinic of Small Animal Medicine, Centre for Clinical Veterinary Medicine, LMU Munich, Munich, Germany.
Hum Genet ; 142(8): 1221-1230, 2023 Aug.
Article en En | MEDLINE | ID: mdl-37222814
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndrome de la Persona Rígida / Hiperekplexia Tipo de estudio: Prognostic_studies / Risk_factors_studies País/Región como asunto: Oceania Idioma: En Revista: Hum Genet Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndrome de la Persona Rígida / Hiperekplexia Tipo de estudio: Prognostic_studies / Risk_factors_studies País/Región como asunto: Oceania Idioma: En Revista: Hum Genet Año: 2023 Tipo del documento: Article