A Novel Missense Mutation in the SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism
Author:
Affiliation:
1. Department of Medicine, University of Miami Miller School of Medicine, Miami, Florida.
2. Department of Pediatrics and Child Health, Faulty of Medicine, University of Khartoum, Khartoum, Sudan.
Publisher
Mary Ann Liebert Inc
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
https://www.liebertpub.com/doi/pdf/10.1089/thy.2018.0137
Reference6 articles.
1. Iodide handling disorders (NIS, TPO, TG, IYD)
2. Amino Acid Residues in Transmembrane Segment IX of the Na+/I– Symporter Play a Role in Its Na+ Dependence and Are Critical for Transport Activity
3. The Sodium/Iodide Symporter (NIS): Molecular Physiology and Preclinical and Clinical Applications
4. Dietary intake of Sudanese women
5. Genetics and phenomics of hypothyroidism and goiter due to NIS mutations
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