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 |
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 (2020)
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
Genes (Basel)
11 :
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 (2020)
Genes (Basel)
11 :