title: A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.
authors.affiliation: Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong.
authors.forename: C W
authors.initials: CW
authors.lastname: Lam
authors.forename: K Y
authors.initials: KY
authors.lastname: Chan
authors.forename: S F
authors.initials: SF
authors.lastname: Tong
authors.forename: B Y
authors.initials: BY
authors.lastname: Chan
authors.forename: Y T
authors.initials: YT
authors.lastname: Chan
authors.forename: Y W
authors.initials: YW
authors.lastname: Chan
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D017920:Antiporters; D005953:Glycogen Storage Disease Type I / Q000201:enzymology* / Q000235:genetics*; D006723:Hong Kong; D006801:Humans; D007930:Leucine / Q000235:genetics; D009004:Monosaccharide Transport Proteins; D020125:Mutation, Missense / Q000235:genetics*; D010770:Phosphotransferases / Q000235:genetics*; D011392:Proline / Q000235:genetics
chemical_list: D017920:Antiporters; D009004:Monosaccharide Transport Proteins; C503531:SLC37A4 protein, human; C111261:glucose 6-phosphate(transporter); D011392:Proline; D010770:Phosphotransferases; D007930:Leucine