Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3
| Autor: | Della Marina, Adela, Arlt, Annabelle, Weis, Joachim, Czech, Artur, Grüneboom, Anika, Roos, Andreas, Schara-Schmidt, Ulrike, Depienne, Christel, Gangfuß, Andrea, Kölbel, Heike, Sickmann, Albert, Freier, Erik, Kohlschmidt, Nicolai, Hentschel, Andreas |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Medizinische Fakultät » Universitätsklinikum Essen » Institut für Humangenetik
Medizinische Fakultät » Universitätsklinikum Essen » Zentrum für Kinder- und Jugendmedizin » Klinik für Kinderheilkunde I/Perinatalzentrum QH301-705.5 congenital myasthenic syndrome lipid accumulation Medizin ddc:610 muscle biopsy Biology (General) SLC18A1 vesicular acetylcholine transporter (VAChT) CARS microscopy SLC18A1 -- congenital myasthenic syndrome -- vesicular acetylcholine transporter (VAChT) -- lipid accumulation -- muscle biopsy -- CARS microscopy |
| Zdroj: | Cells, Vol 10, Iss 3481, p 3481 (2021) Cells : open access journal 10(12), 3481 (2021). doi:10.3390/cells10123481 special issue: "Special Issue "Cellular and Molecular Mechanisms in Neuromuscular Diseases: From Basic Research to Clinical Approach" / Special Issue Editors: Dr. Anne Schänzer, Guest Editor; Dr. Tobias Ruck, Guest Editor; Prof. Dr. Andreas Hahn, Guest Editor; Dr. Corinna Preusse, Guest Editor" |
| DOI: | 10.3390/cells10123481 |
| Popis: | Cells : open access journal 10(12), 3481 (2021). doi:10.3390/cells10123481 special issue: "Special Issue "Cellular and Molecular Mechanisms in Neuromuscular Diseases: From Basic Research to Clinical Approach" / Special Issue Editors: Dr. Anne Schänzer, Guest Editor; Dr. Tobias Ruck, Guest Editor; Prof. Dr. Andreas Hahn, Guest Editor; Dr. Corinna Preusse, Guest Editor" Published by MDPI, Basel |
| Databáze: | OpenAIRE |
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