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A Novel Missense Mutation in the SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism
Thyroid hormone synthesis requires the presence of iodide. The sodium–iodide symporter (NIS) is a glycoprotein that mediates the active uptake of iodide from the blood stream into the thyroid grand. NIS defects due to SLC5A5 gene mutations are known to cause congenital hypothyroidism (CH). The propo...
Salvato in:
| Pubblicato in: | Thyroid |
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| Autori principali: | , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Mary Ann Liebert, Inc.
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6098405/ https://ncbi.nlm.nih.gov/pubmed/29759035 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2018.0137 |
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