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Article

A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism.

International journal of molecular medicine - 1 Feb 2013

Yi Ru-Hai, Zhu Wen-Bin, Yang Li-Yong, Lan Lan, Chen Yao, Zhou Jin-Fu, Wang Jing, Su Yue-Qing

Abstract excerpt

Congenital hypothyroidism (CH) is caused by thyroid hormone deficiency present at birth. DUOXA2 (dual oxidase maturation factor 2) is one of the prerequisites for thyroid hormone synthesis. The present study explored the novel mutations of DUOXA2 in CH patients. Genomic DNA was extracted from peripheral blood of 47 unrelated CH patients, their family members and 100 healthy controls. All 6 exons and their...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23292166
DOI: 10.3892/ijmm.2012.1223

Genes

DUOXA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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