title: Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online.
abstract: Three novel mutations, Q54P, W70X and T1081, were identified in the gene encoding glucose-6-phosphatase in three patients with glycogen storage disease type Ia. Two sibs of Portuguese origin were homozygous for the Q54P mutation whereas the third patient, originating from both France and Lebanon, was a compound heterozygote for the W70X and T108I mutations. Glycogen storage disease type Ia is a heterogeneous autosomal recessive condition.
authors.affiliation: Service de Pédiatrie and UPRES EA 2704, Hôpital Antoine Béclère, Clamart, France. philippe.labrune@abc.ap-hop-paris.fr
authors.forename: P
authors.initials: P
authors.lastname: Trioche
authors.forename: J
authors.initials: J
authors.lastname: Francoual
authors.forename: J
authors.initials: J
authors.lastname: Chalas
authors.forename: L
authors.initials: L
authors.lastname: Capel
authors.forename: O
authors.initials: O
authors.lastname: Bernard
authors.forename: P
authors.initials: P
authors.lastname: Labrune
mesh_terms: D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D009154:Mutation
chemical_list: D005952:Glucose-6-Phosphatase