生物
碘化物
碘
运输机
表型
基因
队列
内科学
基因型
突变
内分泌学
遗传学
医学
化学
有机化学
作者
Miaomiao Li,Xiaole Li,Fang Wang,Yubao Ren,Xiao Zhang,Jingli Wang,Lu Shen,Dehua Zhao,ShiguoLiu
出处
期刊:Gene
[Elsevier]
日期:2022-05-01
卷期号:824: 146402-146402
被引量:2
标识
DOI:10.1016/j.gene.2022.146402
摘要
• We screened iodide transporter and recycling genes in a larger cohort of 606 CH patients, the mutation rate of SLC26A4, SLC5A5, SLC26A7, and IYD is 1.98%, 0.82%, 0.66%, 0.17% respectively. • This is the first study focused on exploring the association between genotype and phenotype of iodine transporter and recycling gene defects. • A definite genetic diagnosis of CH is necessary to choose iodine supplementation as adjunct or alternative treatment when there is residual activity, and it is also helpful to avoid mental retardation caused by delayed diagnosis.
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