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Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder.
Hofer, Nadja T; Tuluc, Petronel; Ortner, Nadine J; Nikonishyna, Yuliia V; Fernándes-Quintero, Monica L; Liedl, Klaus R; Flucher, Bernhard E; Cox, Helen; Striessnig, Jörg.
Affiliation
  • Hofer NT; 1Department of Pharmacology and Toxicology, Centre for Molecular Biosciences, University of Innsbruck, Innrain 80/82, 6020 Innsbruck, Austria.
  • Tuluc P; 1Department of Pharmacology and Toxicology, Centre for Molecular Biosciences, University of Innsbruck, Innrain 80/82, 6020 Innsbruck, Austria.
  • Ortner NJ; 1Department of Pharmacology and Toxicology, Centre for Molecular Biosciences, University of Innsbruck, Innrain 80/82, 6020 Innsbruck, Austria.
  • Nikonishyna YV; 1Department of Pharmacology and Toxicology, Centre for Molecular Biosciences, University of Innsbruck, Innrain 80/82, 6020 Innsbruck, Austria.
  • Fernándes-Quintero ML; 2Institute of General, Inorganic and Theoretical Chemistry, Centre for Molecular Biosciences, University of Innsbruck, Innsbruck, Austria.
  • Liedl KR; 2Institute of General, Inorganic and Theoretical Chemistry, Centre for Molecular Biosciences, University of Innsbruck, Innsbruck, Austria.
  • Flucher BE; 3Division of Physiology, Department of Physiology and Medical Physics, Medical University Innsbruck, 6020 Innsbruck, Austria.
  • Cox H; West Midlands Regional Clinical Genetics Service, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, B15 2TG, Birmingham, UK.
  • Striessnig J; 1Department of Pharmacology and Toxicology, Centre for Molecular Biosciences, University of Innsbruck, Innrain 80/82, 6020 Innsbruck, Austria.
Mol Autism ; 11(1): 4, 2020.
Article in En | MEDLINE | ID: mdl-31921405
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Calcium Channels, L-Type / Neurodevelopmental Disorders Type of study: Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Mol Autism Year: 2020 Document type: Article Affiliation country: Austria Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Calcium Channels, L-Type / Neurodevelopmental Disorders Type of study: Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Mol Autism Year: 2020 Document type: Article Affiliation country: Austria Country of publication: United kingdom