title: A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease).
authors.affiliation: Department of Medical Research, China Medical College Hospital, Taichung, Taiwan.
authors.forename: M C
authors.initials: MC
authors.lastname: Wu
authors.forename: F J
authors.initials: FJ
authors.lastname: Tsai
authors.forename: C C
authors.initials: CC
authors.lastname: Lee
authors.forename: C H
authors.initials: CH
authors.lastname: Tsai
authors.forename: J Y
authors.initials: JY
authors.lastname: Wu
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D002681:China / Q000208:ethnology; D005260:Female; D005952:Glucose-6-Phosphatase / Q000235:genetics; D005953:Glycogen Storage Disease Type I / Q000201:enzymology / Q000235:genetics*; D006639:Histidine / Q000235:genetics; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D009679:Nuclear Family / Q000208:ethnology; D013624:Taiwan / Q000453:epidemiology
chemical_list: D006639:Histidine; D005952:Glucose-6-Phosphatase; D007930:Leucine