TY  - GEN
AU  - Indellicato,Rossella
AU  - Domenighini,Ruben
AU  - Malagolini,Nadia
AU  - Cereda,Anna
AU  - Mamoli,Daniela
AU  - Pezzani,Lidia
AU  - Iascone,Maria
AU  - dall'Olio,Fabio
AU  - Trinchera,Marco
TI  - A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9
SN  - 1460-2423
PY  - 2020///1005
KW  - Antigens, Tumor-Associated, Carbohydrate
KW  - biosynthesis
KW  - Carbohydrate Metabolism, Inborn Errors
KW  - genetics
KW  - Epilepsy
KW  - Female
KW  - Gene Expression Regulation
KW  - Humans
KW  - Infant
KW  - Male
KW  - Mutation, Missense
KW  - Sialyltransferases
KW  - Twins, Dizygotic
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Twin Study
UR  - https://doi.org/10.1093/glycob/cwz079
ER  -