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Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.

08:00 EDT 26th April 2019 | BioPortfolio

Summary of "Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients."

Glycogen storage disease type III is an autosomal recessive disorder that is caused by deficiencies of the glycogen debranching enzyme. Mutations within the AGL gene have been found to be heterogeneous, with some common mutations being reported in certain populations. The mutation spectrum of AGL gene in the multi-ethnic Malaysian population is still unknown.

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This article was published in the following journal.

Name: Genes & genomics
ISSN: 2092-9293
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