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...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: 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
التنسيق: مقال
اللغة:English
منشور في: Frontiers Media S.A. 2021-03-01
سلاسل:Frontiers in Endocrinology
الموضوعات:
iodine transport
mutation
SLC5A5
next-generation sequencing
congenital hypothyroidism
الوصول للمادة أونلاين:https://www.frontiersin.org/articles/10.3389/fendo.2021.620117/full

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