Article
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.
European journal of pediatrics - 1 May 2000
Rake J P, ten Berge A M, Visser G, Verlind E, Niezen-Koning K E, Buys C H, Smit G P, Scheffer H
Abstract excerpt
UNLABELLED: We studied the glucose-6-phosphatase (G6Pase) gene of 30 unrelated glycogen storage disease type Ia (GSD Ia) patients using single strand conformational polymorphism (SSCP) prior to automated sequencing of exons revealing an aberrant SSCP pattern. In all patients we could identify mutations on both alleles of the G6Pase gene, indicating that this method is a reliable procedure. A total of 14 different...
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