A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia
Language English Country United States Media print-electronic
Document type Letter, Research Support, Non-U.S. Gov't
Grant support
Department of Health - United Kingdom
PubMed
33998058
DOI
10.1002/mds.28647
Knihovny.cz E-resources
- MeSH
- Dystonic Disorders * genetics MeSH
- Dystonia * genetics MeSH
- Humans MeSH
- Pedigree MeSH
- Vesicular Transport Proteins genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Letter MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- Vesicular Transport Proteins MeSH
- VPS16 protein, human MeSH Browser
Core Facility NGS Helmholtz Zentrum München Munich Germany
Department of Neurology Great Ormond Street Hospital London United Kingdom
Department of Neurology P J Safarik University Kosice Slovak Republic
Department of Neurology University Hospital of L Pasteur Kosice Slovak Republic
Department of Neuromuscular Disorders UCL Queen Square Institute of Neurology London United Kingdom
Developmental Neurosciences UCL Great Ormond Street Institute of Child Health London United Kingdom
Institut für Humangenetik Technische Universität München Munich Germany
Institute of Neurogenomics Helmholtz Zentrum München Munich Germany
Lehrstuhl für Neurogenetik Technische Universität München Munich Germany
Munich Cluster for Systems Neurology SyNergy Munich Germany
UCL Queen Square Institute of Neurology London United Kingdom
References provided by Crossref.org
Central European Group on Genetics of Movement Disorders
