Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8309872 | Clinica Chimica Acta | 2016 | 6 Pages |
Abstract
The prevalence of TSHR mutations was 1.6% in CH patients and 4.2% in SCH patients in Guangxi Zhuang Autonomous Region of China. Monoallelic TSHR pathogenic variants were associated with SCH, while TSHR pathogenic variants combined with monoallelic mutations in DUOX2 or TG gene might contribute to CH. Our study expands the TSHR mutation spectrum and provides the best estimation of mutation rate for SCH and CH patients in this Chinese population.
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Biochemistry
Authors
Chunyun Fu, Jin Wang, Shiyu Luo, Qi Yang, Qifei Li, Haiyang Zheng, Xuyun Hu, Jiasun Su, Shujie Zhang, Rongyu Chen, Jingsi Luo, Yue Zhang, Yiping Shen, Hongwei Wei, Dahua Meng, Baoheng Gui, Zhangqin Zeng, Xin Fan, Shaoke Chen,