| Literature DB >> 16490377 |
Celia J Angaroni1, Philippe Labrune, François Petit, Dario Sastre, Ana E Capra, Raquel Dodelson de Kremer, Carlos E Argaraña.
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.Entities:
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Year: 2006 PMID： 16490377 DOI： 10.1016/j.ymgme.2005.12.011
Source DB: PubMed Journal: Mol Genet Metab ISSN： 1096-7192 Impact factor: 4.797