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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Detalhes bibliográficos
Publicado no:Front Endocrinol (Lausanne)
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021
Assuntos:
Endocrinology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8018529/
https://ncbi.nlm.nih.gov/pubmed/33815280
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2021.620117
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