Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2006 May;88(1):96-9.
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

Celia J Angaroni  1 , Philippe Labrune, François Petit, Dario Sastre, Ana E Capra, Raquel Dodelson de Kremer, Carlos E Argaraña
Affiliations
Case Reports

Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene

Celia J Angaroni et al. 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.

PubMed Disclaimer

Publication types

LinkOut - more resources