title: Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.
authors.affiliation: Centro Dino Ferrari, Università degli Studi di Milano, Italy.
authors.forename: G M
authors.initials: GM
authors.lastname: Hadjigeorgiou
authors.forename: G P
authors.initials: GP
authors.lastname: Comi
authors.forename: A
authors.initials: A
authors.lastname: Bordoni
authors.forename: J
authors.initials: J
authors.lastname: Shen
authors.forename: Y T
authors.initials: YT
authors.lastname: Chen
authors.forename: S
authors.initials: S
authors.lastname: Salani
authors.forename: A
authors.initials: A
authors.lastname: Toscano
authors.forename: F
authors.initials: F
authors.lastname: Fortunato
authors.forename: S
authors.initials: S
authors.lastname: Lucchiari
authors.forename: N
authors.initials: N
authors.lastname: Bresolin
authors.forename: C
authors.initials: C
authors.lastname: Rodolico
authors.forename: M G
authors.initials: MG
authors.lastname: Piscaglia
authors.forename: L
authors.initials: L
authors.lastname: Franceschina
authors.forename: A
authors.initials: A
authors.lastname: Papadimitriou
authors.forename: G
authors.initials: G
authors.lastname: Scarlato
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006004:Glycogen Debranching Enzyme System / Q000235:genetics* / Q000378:metabolism; D006010:Glycogen Storage Disease Type III / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D009154:Mutation; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics
chemical_list: D006004:Glycogen Debranching Enzyme System; D012333:RNA, Messenger; C020569:4 alpha-glucanotransferase