The First Case of Congenital Myasthenic Syndrome Caused by...

Genes 2020 / 12 Vol. 11; Iss. 12

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

Laforgia, Nicola, De Cosmo, Lucrezia, Palumbo, Orazio, Ranieri, Carlotta, Sesta, Michela, Capodiferro, Donatella, Pantaleo, Antonino, Iapicca, Pierluigi, Lastella, Patrizia, Capozza, Manuela, Schettin
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Volume:
11
Journal:
Genes
DOI:
10.3390/genes11121519
Date:
December, 2020
File:
PDF, 1.59 MB
2020
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