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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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| Publicado no: | Oncotarget |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Impact Journals LLC
2016
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| 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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