title: A common 2 bp deletion mutation in the glucose-6-phosphatase gene in Indian patients with glycogen storage disease type Ia.
abstract: This study reports a novel mutation which may be prevalent in Indian patients with glycogen storage disease type Ia.
authors.affiliation: The North Thames (East) Regional Clinical Molecular Genetics Laboratory, London, UK.
authors.forename: C
authors.initials: C
authors.lastname: Meaney
authors.forename: T
authors.initials: T
authors.lastname: Cranston
authors.forename: P
authors.initials: P
authors.lastname: Lee
authors.forename: S
authors.initials: S
authors.lastname: Genet
mesh_terms: D004247:DNA / Q000097:blood; D005091:Exons; D017353:Gene Deletion; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007194:India; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
chemical_list: D004247:DNA; D005952:Glucose-6-Phosphatase