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).
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Alleles*
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Antiporters
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Child
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Child, Preschool
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DNA Restriction Enzymes / pharmacology
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Exons
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France
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Genetic Variation
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Glycogen Storage Disease Type I / diagnosis*
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Glycogen Storage Disease Type I / genetics*
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Humans
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Introns
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Monosaccharide Transport Proteins
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Mutation
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Phosphotransferases / genetics*
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Polymorphism, Single-Stranded Conformational
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Sequence Analysis, DNA
Substances
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Antiporters
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Monosaccharide Transport Proteins
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SLC37A4 protein, human
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glucose 6-phosphate(transporter)
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Phosphotransferases
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DNA Restriction Enzymes