Article
Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.
Journal of human genetics - 1 Jan 2006
Endo Yoriko, Horinishi Asako, Vorgerd Matthias, Aoyama Yoshiko, Ebara Tetsu, Murase Toshio, Odawara Masato, Podskarbi Teodor, Shin Yoon S, Okubo Minoru
Abstract excerpt
Glycogen storage disease type III (GSD III) is an autosomal recessive disorder characterized by excessive accumulation of abnormal glycogen in the liver and/or muscles and caused by deficiency in the glycogen debranching enzyme (AGL). Previous studies have revealed that the spectrum of AGL mutations in GSD III patients depends on ethnic grouping. We investigated nine GSD III patients from Germany, Canada,...
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