Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome.

Sparber, Peter; Mikhaylova, Svetlana; Galkina, Varvara; Itkis, Yulia; Skoblov, Mikhail

Sparber, Peter; Mikhaylova, Svetlana; Galkina, Varvara; Itkis, Yulia; Skoblov, Mikhail.

Afiliación

Sparber P; Laboratory of Functional Genomics, Research Centre for Medical Genetics, Moscow, Russia.
Mikhaylova S; Medical Genetics Department, Russian Children's Clinical Hospital, Moscow, Russia.
Galkina V; Clinical Department, Research Centre for Medical Genetics, Moscow, Russia.
Itkis Y; Laboratory of Inherited Metabolic Disorders, Research Centre for Medical Genetics, Moscow, Russia.
Skoblov M; Laboratory of Functional Genomics, Research Centre for Medical Genetics, Moscow, Russia.

Front Neurol ; 12: 761892, 2021.

Article en En | MEDLINE | ID: mdl-34938262

Palabras clave

Dravet syndrome; epilepsy; functional analysis; medical genetics; molecular pathogenesis; splicing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Neurol Año: 2021 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Suiza

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