Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism

Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism

Background and ObjectivesDefects in the human sodium/iodide symporter (SLC5A5) gene have been reported to be one of the causes of congenital hypothyroidism (CH). We aimed to identify SLC5A5 mutations in Chinese patients with CH and to evaluate the function of the mutation.MethodsTwo hundred and seve...

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מידע ביבליוגרפי
Main Authors: Cao-Xu Zhang, Jun-Xiu Zhang, Liu Yang, Chang-Run Zhang, Feng Cheng, Rui-Jia Zhang, Ya Fang, Zheng Wang, Feng-Yao Wu, Pei-Zhang Li, Jun Liang, Rui Li, Huai-Dong Song
פורמט: Article
שפה:English
יצא לאור: Frontiers Media S.A. 2021-03-01
סדרה:Frontiers in Endocrinology
נושאים:
iodine transport
mutation
SLC5A5
next-generation sequencing
congenital hypothyroidism
גישה מקוונת:https://www.frontiersin.org/articles/10.3389/fendo.2021.620117/full

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