Article
Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.
Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2016
Fu Chunyun, Wang Jin, Luo Shiyu, Yang Qi, Li Qifei, Zheng Haiyang, Hu Xuyun, Su Jiasun, Zhang Shujie, Chen Rongyu, Luo Jingsi, Zhang Yue, Shen Yiping, Wei Hongwei, Meng Dahua, Gui Baoheng, Zeng Zhangqin, Fan Xin, Chen Shaoke
Abstract excerpt
BACKGROUND: Defects in the human TSHR gene are reported to be one of the causes of CH due to thyroid dysgenesis, the purpose of this study was to examine the TSHR mutation spectrum and prevalence in congenital hypothyroidism (CH) and subclinical congenital hypothyroidism (SCH) patients in the Guangxi Zhuang Autonomous Region of China and to evaluate the genotype-phenotype correlations. METHODS: Blood samples were...
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