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...

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Detalhes bibliográficos
Publicado no:Thyroid
Main Authors: Watanabe, Yui, Ebrhim, Reham S., Abdullah, Mohamed A., Weiss, Roy E.
Formato: Artigo
Idioma:Inglês
Publicado em: Mary Ann Liebert, Inc. 2018
Assuntos:
Brief Reports on Novel Mutations Associated with Inherited Thyroid Disorders
Acesso em linha: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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