Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism

• Main Authors: Chang-Run Zhang (Author), Yuan-Ping Shi (Author), Cao-Xu Zhang (Author), Feng Sun (Author), Wen-Jiao Zhu (Author), Rui-Jia Zhang (Author), Ya Fang (Author), Qian-Yue Zhang (Author), Chen-Yan Yan (Author), Ying-Xia Ying (Author), Shuang-Xia Zhao (Author), Huai-Dong Song (Author)
• Format: Book
• Published: Galenos Yayincilik, 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

INTRODUCTION: Defects in the human solute carrier family 26 member 4 (SLC26A4) gene are reported to be one of the causes of congenital hypothyroidism (CH). We aimed to identify SLC26A4 mutations in Chinese patients with CH and analyze the function of the mutations. METHODS: Patients with primary CH...