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
. 2000 Nov;16(5):444.
doi: 10.1002/1098-1004(200011)16:5<444::AID-HUMU10>3.0.CO;2-F.

Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients

P Trioche  1 , J Francoual, J Chalas, L Capel, A Lindenbaum, M Odièvre, P Labrune
Affiliations

Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients

P Trioche et al. Hum Mutat. 2000 Nov.

Abstract

Forty-eight patients with glycogen storage disease type Ia (GSD Ia) were studied. Using a combination of single-strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 93/96 mutant alleles, comprising 23 different mutations in the glucose-6-phosphatase gene (G6PC). Among these, 7 are novel mutations of G6PC: M5R, T111I, A241T, C270R, F322L, and two deletions, 793delG and 872delC, resulting in the same mutation at the amino acid level, fs300Ter (300X).

PubMed Disclaimer

Publication types

Substances

LinkOut - more resources