A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/jhg2013117.pdf
Reference24 articles.
1. Coleman, R. A., Winter, H. S., Wolf, B., Gilchrist, J. M. & Chen, Y. T. Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy. Ann. Intern. Med. 116, 896–900 (1992).
2. Shen, J., Bao, Y., Liu, H. M., Lee, P., Leonard, J. V. & Chen, Y. T. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. J. Clin. Invest. 98, 352–357 (1996).
3. Bao, Y., Dawson, T. L. Jr. & Chen, Y. T. Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5′ flanking region. Genomics 38, 155–165 (1996).
4. Kishnani, P. S., Austin, S. L., Arn, P., Bali, D. S., Boney, A., Case, L. E. et al. Glycogen storage disease type III diagnosis and management guidelines. Genet. Med. 12, 446–463 (2010).
5. Parvari, R., Moses, S., Shen, J., Hershkovitz, E., Lerner, A. & Chen, Y. T. A single-base deletion in the 3′-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients. Eur. J. Hum. Genet. 5, 266–270 (1997).
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