title: Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease).
authors.affiliation: Department of Medical Research, China Medical College Hospital, Taichung.
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: Le
authors.forename: S P
authors.initials: SP
authors.lastname: Lin
authors.forename: J Y
authors.initials: JY
authors.lastname: Wu
mesh_terms: D000409:Alanine; D019943:Amino Acid Substitution / Q000235:genetics; D044466:Asian People / Q000235:genetics; D002681:China / Q000208:ethnology; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D013912:Threonine
chemical_list: D013912:Threonine; D005952:Glucose-6-Phosphatase; D000409:Alanine