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Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy.
Endo, Yukari; Groom, Linda; Wang, Sabrina M; Pannia, Emanuela; Griffiths, Nigel W; Van Gennip, Jenica L M; Ciruna, Brian; Laporte, Jocelyn; Dirksen, Robert T; Dowling, James J.
Afiliação
  • Endo Y; Program for Genetics and Genome Biology, Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada.
  • Groom L; Department of Pharmacology and Physiology, University of Rochester Medical Center, 601 Elmwood Ave, Rochester, NY 14642, United States.
  • Wang SM; Program for Genetics and Genome Biology, Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada.
  • Pannia E; Program for Genetics and Genome Biology, Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada.
  • Griffiths NW; Zebrafish Genetics and Disease Models Core Facility, Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada.
  • Van Gennip JLM; Program in Developmental and Stem Cell Biology, Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada.
  • Ciruna B; Program in Developmental and Stem Cell Biology, Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada.
  • Laporte J; Program in Developmental and Stem Cell Biology, Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada.
  • Dirksen RT; Department of Molecular Genetics, University of Toronto, 1 King's College Circle, Toronto, ON M5S 1A8, Canada.
  • Dowling JJ; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, Cnrs UMR7104, Université de Strasbourg, 1 Rue Laurent Fries, Illkirch 67400, France.
Hum Mol Genet ; 33(3): 254-269, 2024 Jan 20.
Article em En | MEDLINE | ID: mdl-37930228
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Canais de Cálcio Tipo L / Proteínas de Peixe-Zebra / Doenças Musculares Limite: Animals / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Canadá
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Canais de Cálcio Tipo L / Proteínas de Peixe-Zebra / Doenças Musculares Limite: Animals / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Canadá