Article
A Novel, Recurrent, 3.6-kb Deletion in the PYGL Gene Contributes to Glycogen Storage Disease Type VI.
The Journal of molecular diagnostics : JMD - 1 Dec 2020
Liu Bo, Wu Bingbing, Lu Yi, Zhang Ping, Xiao Feifan, Li Gang, Wang Huijun, Dong Xinran, Liu Renchao, Li Yuchuan, Xie Xinbao, Zhou Wenhao, Wang Jianshe, Lu Yulan
Abstract excerpt
The PYGL gene is the only established gene known to cause glycogen storage disease type VI (GSD6), which is a rare autosomal recessive disorder associated with hepatomegaly, elevated levels of hepatic transaminases, and hypoglycemia. Extended bioinformatics analysis was performed on the exome sequencing data of 5 patients who were clinically diagnosed as having or highly suspected of having GSD, and a single...
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