Functional analysis of thyroid peroxidase gene mutations resulting in congenital hypothyroidism
Functional analysis of thyroid peroxidase gene mutations resulting in congenital hypothyroidism
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DOI：
10.1111/cen.14253
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发表时间：
2020-05
影响因子：
3.2
通讯作者：
Defa Zhao;Y. Li;Z. Shan;W. Teng;Jing Li;Xiaochun Teng
中科院分区：
文献类型：
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作者：
Defa Zhao;Y. Li;Z. Shan;W. Teng;Jing Li;Xiaochun Teng
甲状腺过氧化物酶（TPO）是甲状腺激素生物合成所必需的。TPO突变可能导致先天性甲状腺功能减退症。在本研究中，我们分析了一个中国家庭的复合杂合TPO突变的功能。
Thyroid peroxidase (TPO) is essential for thyroid hormone biosynthesis. TPO mutations might lead to congenital hypothyroidism. In the present study, we analysed the function of a compound heterozygous TPO mutation in a Chinese family.