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A Novel Missense Mutation (I26M) in<i>DUOXA2</i>Causing Congenital Goiter Hypothyroidism Impairs NADPH Oxidase Activity but Not Protein Expression

12 Feb 2015

Abstract excerpt

CONTEXT: Dual-oxidase maturation factor 2 (DUOXA2) is a component of the thyroid hydrogen peroxidase (H2O2) generator, which is crucial for hormone synthesis. Genetic defects in DUOXA2 lead to an impairment of the H2O2-generating system, in turn causing congenital hypothyroidism (CH) with goiter. CASE DESCRIPTION: Our study aimed to identify DUOXA2 mutations associated with Chinese congenital goiter...

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PMID: 25675383
DOI: 10.1210/jc.2014-3964

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