title: Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients.
abstract: Forty-eight patients with glycogen storage disease type Ia (GSD Ia) were studied. Using a combination of single-strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 93/96 mutant alleles, comprising 23 different mutations in the glucose-6-phosphatase gene (G6PC). Among these, 7 are novel mutations of G6PC: M5R, T111I, A241T, C270R, F322L, and two deletions, 793delG and 872delC, resulting in the same mutation at the amino acid level, fs300Ter (300X).
authors.affiliation: Service de Pédiatrie and UPRES EA 2704, H¿pital Antoine B|cl¿re (AP-HP), 92141 Clamart cedex, France.
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: A
authors.initials: A
authors.lastname: Lindenbaum
authors.forename: M
authors.initials: M
authors.lastname: Odièvre
authors.forename: P
authors.initials: P
authors.lastname: Labrune
mesh_terms: D000483:Alleles; D005602:France / Q000453:epidemiology; D018740:Genetic Heterogeneity; D005952:Glucose-6-Phosphatase / Q000235:genetics / Q000378:metabolism; D005953:Glycogen Storage Disease Type I / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008099:Liver / Q000201:enzymology; D009154:Mutation / Q000235:genetics; D015995:Prevalence; D017384:Sequence Deletion / Q000235:genetics
chemical_list: D005952:Glucose-6-Phosphatase