Abstract
A new splicing site substitution (c.985-1G>C) in the glucose-6-phosphate translocase (G6PT1) gene was detected in both alleles of an Argentinean patient. This mutation was associated with an unusual GSD-Ib phenotype without neutropenia. A PCR-based cDNA analysis showed that the c.985-1G>C mutation produced two abnormal spliced G6PT1 transcripts both encoding hypothetical truncated proteins.
Publication types
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Case Reports
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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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Alternative Splicing
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Amino Acid Sequence
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Base Sequence
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Child
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Child, Preschool
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Female
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Glucose-6-Phosphate / metabolism*
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Glycogen Storage Disease Type I / genetics*
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Humans
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Membrane Transport Proteins / genetics*
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Molecular Sequence Data
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Neutropenia / genetics
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Point Mutation
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RNA Splice Sites / genetics
Substances
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Membrane Transport Proteins
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RNA Splice Sites
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Glucose-6-Phosphate