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Germline de novo variant F747S extends the phenotypic spectrum of CACNA1D Ca2+ channelopathies.
Török, Ferenc; Tezcan, Kamer; Filippini, Ludovica; Fernández-Quintero, Monica L; Zanetti, Lucia; Liedl, Klaus R; Drexel, Raphaela S; Striessnig, Jörg; Ortner, Nadine J.
Afiliación
  • Török F; Department of Pharmacology and Toxicology, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck 6020, Austria.
  • Tezcan K; Department of Genetics, Kaiser Permanente, Sacramento, CA 95825, USA.
  • Filippini L; Department of Pharmacology and Toxicology, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck 6020, Austria.
  • Fernández-Quintero ML; Department of General, Inorganic and Theoretical Chemistry, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck 6020, Austria.
  • Zanetti L; Department of Pharmacology and Toxicology, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck 6020, Austria.
  • Liedl KR; Department of General, Inorganic and Theoretical Chemistry, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck 6020, Austria.
  • Drexel RS; Department of Pharmacology and Toxicology, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck 6020, Austria.
  • Striessnig J; Department of Pharmacology and Toxicology, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck 6020, Austria.
  • Ortner NJ; Department of Pharmacology and Toxicology, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck 6020, Austria.
Hum Mol Genet ; 32(5): 847-859, 2023 02 19.
Article en En | MEDLINE | ID: mdl-36208199
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Calcio / Canalopatías Límite: Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Austria
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Calcio / Canalopatías Límite: Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Austria