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

OBJECTIVE: 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 wer...

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Detalles Bibliográficos
Autores principales: Zhang, Chang-Run, Shi, Yuan-Ping, Zhang, Cao-Xu, Sun, Feng, Zhu, Wen-Jiao, Zhang, Rui-Jia, Fang, Ya, Zhang, Qian-Yue, Yan, Chen-Yan, Ying, Ying-Xia, Zhao, Shuang-Xia, Song, Huai-Dong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8900076/
https://www.ncbi.nlm.nih.gov/pubmed/34545167
http://dx.doi.org/10.4274/jcrpe.galenos.2021.2021.0122