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Article

Screening and Functional Analysis of TPO Gene Mutations in a Cohort of Chinese Patients With Congenital Hypothyroidism.

Frontiers in endocrinology - 1 Jan 2021

Wang Huijjuan, Wang Wenxia, Chen Xi, Shi Hailong, Shi Yinmin, Ding Guifeng

Abstract excerpt

Backgrounds: As a crucial enzyme in thyroid hormone synthesis, the genetic defective thyroid peroxidase (TPO) was one of the main genetic factors leading to congenital hypothyroidism (CH). Methods: Mutations in the TPO gene were screened and identified in 219 patients with CH from northwest China by using high-throughput sequencing and bioinformatics analysis. The biological function of detected variants was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35002963
DOI: 10.3389/fendo.2021.774941
PMCID: PMC8729100

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