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Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia.
Marakhonov, Andrey V; Prechová, Magdalena; Konovalov, Fedor A; Filatova, Alexandra Yu; Zamkova, Maria A; Kanivets, Ilya V; Solonichenko, Vladimir G; Semenova, Natalia A; Zinchenko, Rena A; Treisman, Richard; Skoblov, Mikhail Yu.
Afiliación
  • Marakhonov AV; Laboratory of Genetic Epidemiology, Laboratory of Functional Genomics, Department of Genetic Counseling, Research Centre for Medical Genetics, Moscow, Russia.
  • Prechová M; Laboratory of Integrative Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.
  • Konovalov FA; Signalling and Transcription Laboratory, Francis Crick Institute, London, UK.
  • Filatova AY; Independent Clinical Bioinformatics Laboratory, Moscow, Russia.
  • Zamkova MA; Laboratory of Genetic Epidemiology, Laboratory of Functional Genomics, Department of Genetic Counseling, Research Centre for Medical Genetics, Moscow, Russia.
  • Kanivets IV; Laboratory of Regulatory Mechanisms in Immunity, Institute of Carcinogenesis, N.N. Blokhin Russian Cancer Research Center, Moscow, Russia.
  • Solonichenko VG; Laboratory of Molecular Pathology, Genomed Ltd., Moscow, Russia.
  • Semenova NA; Medical Genetic Centre, Filatov Moscow Pediatric Clinical Hospital, Moscow, Russia.
  • Zinchenko RA; Medical Genetic Centre, Filatov Moscow Pediatric Clinical Hospital, Moscow, Russia.
  • Treisman R; Laboratory of Genetic Epidemiology, Laboratory of Functional Genomics, Department of Genetic Counseling, Research Centre for Medical Genetics, Moscow, Russia.
  • Skoblov MY; Laboratory of Genetic Epidemiology, Laboratory of Functional Genomics, Department of Genetic Counseling, Research Centre for Medical Genetics, Moscow, Russia.
Clin Genet ; 99(5): 673-683, 2021 05.
Article en En | MEDLINE | ID: mdl-33463715
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Espasmos Infantiles / Epilepsia / Proteínas de Microfilamentos / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Child, preschool / Humans / Infant / Male Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: Rusia
Texto completo
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PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Espasmos Infantiles / Epilepsia / Proteínas de Microfilamentos / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Child, preschool / Humans / Infant / Male Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: Rusia