A common 2 bp deletion mutation in the glucose-6-phosphatase gene in Indian patients with glycogen storage disease type Ia.
This study reports a novel mutation which may be prevalent in Indian patients with glycogen storage disease type Ia.
Meaney
C
C
The North Thames (East) Regional Clinical Molecular Genetics Laboratory, London, UK.
Cranston
T
T
Lee
P
P
Genet
S
S
D004247:DNA / Q000097:blood; D005091:Exons; D017353:Gene Deletion; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007194:India; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
D004247:DNA; D005952:Glucose-6-Phosphatase