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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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| Yayımlandı: | Front Endocrinol (Lausanne) |
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| Asıl Yazarlar: | , , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Frontiers Media S.A.
2019
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6688124/ https://ncbi.nlm.nih.gov/pubmed/31428054 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2019.00526 |
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