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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Detalles Bibliográficos
Autores principales: Liu, Shiguo, Zhang, Wenhui, Zhang, Liqin, Zou, Hui, Lu, Kunna, Li, Qiang, Xia, Hongfei, Yan, Shengli, Ma, Xu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2016
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796979/
https://www.ncbi.nlm.nih.gov/pubmed/29435108
http://dx.doi.org/10.18632/oncotarget.10525

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