Case Reports
doi: 10.1016/j.ymgme.2005.12.011.
Epub 2006 Feb 21.
Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene
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- PMID: 16490377
- DOI: 10.1016/j.ymgme.2005.12.011
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Case Reports
Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene
Mol Genet Metab.
2006 May.
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.
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