Title : 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_2020_Genes.(Basel)_11_ |
Author(s) :
Laforgia N , De Cosmo L , Palumbo O , Ranieri C , Sesta M , Capodiferro D , Pantaleo A , Iapicca P , Lastella P , Capozza M , Schettini F , Bukvic N , Bagnulo R , Resta N |
Ref :
Genes (Basel) , 11 : , 2020 |
Abstract : Laforgia_2020_Genes.(Basel)_11_ |
ESTHER : Laforgia_2020_Genes.(Basel)_11_ |
PubMedSearch : Laforgia_2020_Genes.(Basel)_11_ |
PubMedID: 33353066 |