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Background:  Glycogen storage disease type Ia (GSD Ia) is an autosomal recessive disorder, and diagnosis depends on genetic testing. Recently, microarray analysis has become a useful new technique for mutation analysis. We developed a GSD Ia microarray capable of identifying known mutations in the  G6PC  gene and validate the feasibility of using it as a rapid detection method for DNA-based diagnosis.

Rapid detection of glycogen storage disease type Ia by DNA microarray