A common 2 bp deletion mutation in the glucose-6-phosphatase gene in Indian patients with glycogen storage disease type Ia

J Inherit Metab Dis. 2001 Aug;24(4):517-8. doi: 10.1023/a:1010598109582.

Authors

C Meaney¹, T Cranston, P Lee, S Genet

Affiliation

¹ The North Thames (East) Regional Clinical Molecular Genetics Laboratory, London, UK.

PMID: 11596659
DOI: 10.1023/a:1010598109582

Abstract

This study reports a novel mutation which may be prevalent in Indian patients with glycogen storage disease type Ia.

MeSH terms

DNA / blood
Exons
Gene Deletion*
Glucose-6-Phosphatase / genetics*
Glycogen Storage Disease Type I / enzymology
Glycogen Storage Disease Type I / genetics*
Humans
India
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Sequence Analysis, DNA

Substances

DNA
Glucose-6-Phosphatase