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

BACKGROUND AND OBJECTIVES: Defects 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. METHODS: Two hundred and...

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Detalles Bibliográficos
Autores principales: Zhang, Cao-Xu, Zhang, Jun-Xiu, Yang, Liu, Zhang, Chang-Run, Cheng, Feng, Zhang, Rui-Jia, Fang, Ya, Wang, Zheng, Wu, Feng-Yao, Li, Pei-Zhang, Liang, Jun, Li, Rui, Song, Huai-Dong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8018529/
https://www.ncbi.nlm.nih.gov/pubmed/33815280
http://dx.doi.org/10.3389/fendo.2021.620117

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8018529/
https://www.ncbi.nlm.nih.gov/pubmed/33815280
http://dx.doi.org/10.3389/fendo.2021.620117

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