Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey

@article{Endo2006MolecularAO,
  title={Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey},
  author={Yoriko Endo and Asako Horinishi and Matthias Vorgerd and Yoshiko Aoyama and Tetsu Ebara and Toshio Murase and Masato Odawara and Teodor Podskarbi and Yoon Sup Shin and Minoru Okubo},
  journal={Journal of Human Genetics},
  year={2006},
  volume={51},
  pages={958-963}
}
AbstractGlycogen 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, Afghanistan, Iran, and Turkey and identified six novel AGL mutations: one nonsense… CONTINUE READING
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