title: Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b.
authors.forename: Ching-Wan
authors.initials: CW
authors.lastname: Lam
authors.forename: Matthew Shu-Ching
authors.initials: MS
authors.lastname: Yan
authors.forename: Tat-Yin
authors.initials: TY
authors.lastname: Law
authors.forename: Sui-Fan
authors.initials: SF
authors.lastname: Tong
authors.forename: A
authors.initials: A
authors.lastname: Orrico
authors.forename: L
authors.initials: L
authors.lastname: Galli
authors.forename: V
authors.initials: V
authors.lastname: Sorrentino
authors.forename: A
authors.initials: A
authors.lastname: Benedetti
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D017920:Antiporters / Q000235:genetics*; D001483:Base Sequence; D005953:Glycogen Storage Disease Type I / Q000235:genetics*; D006801:Humans; D007558:Italy; D008969:Molecular Sequence Data; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D017920:Antiporters; D009004:Monosaccharide Transport Proteins; C503531:SLC37A4 protein, human