title: Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.
abstract: Eleven patients with glycogen storage disease type Ib (GSD Ib) were studied. Using a combination of single-strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 21/22 mutant alleles comprising 12 different mutations in the glucose-6-phosphate translocase gene (G6PT). Among these, one is a novel mutation of G6PT: 855T>C (L229P).
authors.affiliation: Service de Pédiatrie and UPRES EA 2705, Hôpital Antoine Béclère (AP-HP), Clamart cedex, France.
authors.forename: P
authors.initials: P
authors.lastname: Trioche
authors.forename: F
authors.initials: F
authors.lastname: Petit
authors.forename: J
authors.initials: J
authors.lastname: Francoual
authors.forename: V
authors.initials: V
authors.lastname: Gajdos
authors.forename: L
authors.initials: L
authors.lastname: Capel
authors.forename: C
authors.initials: C
authors.lastname: Poüs
authors.forename: P
authors.initials: P
authors.lastname: Labrune
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D017920:Antiporters; D002648:Child; D002675:Child, Preschool; D004262:DNA Restriction Enzymes / Q000494:pharmacology; D005091:Exons; D005602:France; D014644:Genetic Variation; D005953:Glycogen Storage Disease Type I / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007438:Introns; D009004:Monosaccharide Transport Proteins; D009154:Mutation; D010770:Phosphotransferases / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
chemical_list: D017920:Antiporters; D009004:Monosaccharide Transport Proteins; C503531:SLC37A4 protein, human; C111261:glucose 6-phosphate(transporter); D010770:Phosphotransferases; D004262:DNA Restriction Enzymes