A novel non-sense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9
Indellicato, Rossella, Domenighini, Ruben, Malagolini, Nadia, Cereda, Anna, Mamoli, Daniela, Pezzani, Lidia, Iascone, Maria, dall'Olio, Fabio, Trinchera, MarcoLanguage:
english
Journal:
Glycobiology
DOI:
10.1093/glycob/cwz079
Date:
October, 2019
File:
PDF, 693 KB
english, 2019