title: Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.
authors.affiliation: Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata di Roma, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Maceratesi
authors.forename: F
authors.initials: F
authors.lastname: Sangiuolo
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: P
authors.initials: P
authors.lastname: Ninfali
authors.forename: M
authors.initials: M
authors.lastname: Magnani
authors.forename: J K
authors.initials: JK
authors.lastname: Reichardt
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D004912:Erythrocytes / Q000201:enzymology; D016368:Frameshift Mutation; D005693:Galactosemias / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007558:Italy; D017354:Point Mutation; D011110:Polymorphism, Genetic; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency / Q000235:genetics*
chemical_list: D005694:UTP-Hexose-1-Phosphate Uridylyltransferase