title: Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online.
abstract: Deficient activity of glucose-6-phosphatase (G6Pase) causes glycogen storage disease type Ia (GSD Ia). We analysed the G6Pase gene of 16 GSD Ia patients using single strand conformation polymorphism (SSCP) analysis prior to automated sequencing of exon(s) revealing an aberrant SSCP pattern. In all GSD Ia patients we were able to identify mutations on both alleles of the G6Pase gene, indicating that this method is a reliable procedure to identify mutations. Four novel mutations (175delGG, R170X, G266V and V338F) were identified.
authors: Department of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, The Netherlands.
authors: J P
authors: JP
authors: Rake
authors: A M
authors: AM
authors: ten Berge
authors: E
authors: E
authors: Verlind
authors: G
authors: G
authors: Visser
authors: K E
authors: KE
authors: Niezen-Koning
authors: C H
authors: CH
authors: Buys
authors: G P
authors: GP
authors: Smit
authors: H
authors: H
authors: Scheffer
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D005952:Glucose-6-Phosphatase / Q000235:genetics; D005953:Glycogen Storage Disease Type I / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D005952:Glucose-6-Phosphatase