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Article

A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.

Journal of human genetics - 1 Jan 2014

Ko Jae Sung, Moon Jin Soo, Seo Jeong Kee, Yang Hye Ran, Chang Ju Young, Park Sung Sup

Abstract excerpt

Glycogen storage disease type III (GSD III) is an autosomal recessive disorder that is characterized by the excessive accumulation of abnormal glycogen in the liver and muscles and is caused by a deficiency in glycogen debranching enzyme (amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL)) activity. To investigate the molecular characteristics of GSD III patients in Korea, we have sequenced the AGL gene in...

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Amino Acid Substitution
Asian People
Child, Preschool
Gene Frequency
Glycogen Debranching Enzyme System

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Republic of Korea

Sequence Alignment

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Identifiers

PMID: 24257475
DOI: 10.1038/jhg.2013.117

Genes

AGL

Variants

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