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

Journal of clinical research in pediatric endocrinology - 3 Mar 2022

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

Abstract excerpt

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 were screened for 21 CH candidate genes mutations by targeted next-generation sequencing. All the exons and exon-intron...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34545167
DOI: 10.4274/jcrpe.galenos.2021.2021.0122
PMCID: PMC8900076

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