Genotype phenotype associations across the voltage-gated sodium channel family.

Brunklaus, Andreas; Ellis, Rachael; Reavey, Eleanor; Semsarian, Christopher; Zuberi, Sameer M

Brunklaus, Andreas; Ellis, Rachael; Reavey, Eleanor; Semsarian, Christopher; Zuberi, Sameer M.

Afiliación

Brunklaus A; The Paediatric Neurosciences Research Group, Royal Hospital for Sick Children, Glasgow, UK.
Ellis R; The Paediatric Neurosciences Research Group, Royal Hospital for Sick Children, Glasgow, UK Molecular Diagnostics, West of Scotland Genetic Services, Southern General Hospital, Glasgow, UK.
Reavey E; The Paediatric Neurosciences Research Group, Royal Hospital for Sick Children, Glasgow, UK Molecular Diagnostics, West of Scotland Genetic Services, Southern General Hospital, Glasgow, UK.
Semsarian C; Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia Sydney Medical School, University of Sydney, Australia.
Zuberi SM; The Paediatric Neurosciences Research Group, Royal Hospital for Sick Children, Glasgow, UK School of Medicine, College of Medical, Veterinary & Life Sciences, University of Glasgow, UK.

J Med Genet ; 51(10): 650-8, 2014 Oct.

Article en En | MEDLINE | ID: mdl-25163687

Asunto(s)

Estudios de Asociación Genética; Canales de Sodio Activados por Voltaje/genética; Epilepsias Mioclónicas/genética; Humanos; Mutación/genética; Convulsiones Febriles/genética

Palabras clave

SCN1A; SCN2A; SCN4A; SCN5A; SCN9A

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Estudios de Asociación Genética / Canales de Sodio Activados por Voltaje Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: J Med Genet Año: 2014 Tipo del documento: Article País de afiliación: Reino Unido

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