The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein

The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Genes 2020, Vol.11 (12)
Hauptverfasser: Laforgia, Nicola, De Cosmo, Lucrezia, Palumbo, Orazio, Ranieri, Carlotta, Sesta, Michela, Capodiferro, Donatella, Pantaleo, Antonino, Iapicca, Pierluigi, Lastella, Patrizia, Capozza, Manuela, Schettini, Federico, Bukvic, Nenad, Bagnulo, Rosanna, Resta, Nicoletta
Format: Report
Sprache:eng
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:
ISSN:2073-4425
DOI:10.3390/genes11121519