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Article

Functional analysis of thyroid peroxidase gene mutations resulting in congenital hypothyroidism.

Clinical endocrinology - 1 Oct 2020

Zhao Defa, Li Yang, Shan Zhongyan, Teng Weiping, Li Jing, Teng Xiaochun

Abstract excerpt

OBJECTIVE: 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. DESIGN: We studied a 23-year-old Chinese girl with a history of growth retardation and severe constipation from the age of 3 months, who was diagnosed as having...

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PMID: 32424871
DOI: 10.1111/cen.14253

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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