Identification of Two Missense Mutations in DUOX1 (p.R1307Q) and DUOXA1 (p.R56W) That Can Cause Congenital Hypothyroidism Through Impairing H(2)O(2) Generation

Context: The DUOX/DUOXA systems play a key role in H(2)O(2) generation in thyroid cells, which is required for iodine organification and thyroid hormone synthesis. DUOX2/DUOXA2 defects can cause congenital hypothyroidism (CH), but it is unknown whether DUOX1/DUOXA1 mutations can also cause CH. Objec...

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Detalles Bibliográficos
Autores principales: Liu, Shiguo, Han, Wenxiu, Zang, Yucui, Zang, Hongwei, Wang, Fang, Jiang, Pei, Wei, Hongwei, Liu, Xiangju, Wang, Yangang, Ma, Xu, Ge, Yinlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688124/
https://www.ncbi.nlm.nih.gov/pubmed/31428054
http://dx.doi.org/10.3389/fendo.2019.00526

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