Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.

Abstract excerpt

Glycogen storage disease type III (GSD III), a rare autosomal recessive disease characterized by hepatomegaly, fasting hypoglycemia, growth retardation, progressive myopathy and cardiomyopathy, is caused by deficiency of the glycogen debranching enzyme (AGL). Direct sequencing of human AGL cDNA and genomic DNA has enabled analysis of the underlying genetic defects responsible for GSD III. To date, the frequent...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Asian People
• Share to China
• Share to Computational Biology