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Genetic and functional analysis of two missense DUOX2 mutations in congenital hypothyroidism and goiter

Mutations in the dual oxidase 2 gene (DUOX2) impair hydrogen peroxide (H(2)O(2)) production and cause dyshormonogenesis. In addition, these mutations have been implicated in autosomal recessive congenital hypothyroidism (CH) with goiter. In this study, we identified DUOX2 mutations that were causati...

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Detalhes bibliográficos
Publicado no:Oncotarget
Main Authors: Liu, Shiguo, Zhang, Wenhui, Zhang, Liqin, Zou, Hui, Lu, Kunna, Li, Qiang, Xia, Hongfei, Yan, Shengli, Ma, Xu
Formato: Artigo
Idioma:Inglês
Publicado em: Impact Journals LLC 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5796979/
https://ncbi.nlm.nih.gov/pubmed/29435108
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18632/oncotarget.10525
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