A Novel V59E Missense Mutation in the Sodium Iodide Symporter Gene in a Family with Iodide Transport Defect
Author:
Publisher
Mary Ann Liebert Inc
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
https://www.liebertpub.com/doi/pdf/10.1089/thy.2000.10.471
Reference7 articles.
1. Congenital hypothyroidism caused by a mutation in the Na+/l− symporter
2. High Prevalence of T354P Sodium/Iodide Symporter Gene Mutation in Japanese Patients with Iodide Transport Defect Who Have Heterogeneous Clinical Pictures
3. FIVE CASES OF ABSENCE OF IODIDE CONCENTRATING MECHANISM
4. Membrane Topology Motifs in the SGLT Cotransporter Family
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1. Genetic analysis of iodide transporter and recycling (NIS, PDS, SLC26A7, IYD) in patients with congenital hypothyroidism;Gene;2022-05
2. The Iodide Transport Defect-Causing Y348D Mutation in the Na+/I− Symporter Renders the Protein Intrinsically Inactive and Impairs Its Targeting to the Plasma Membrane;Thyroid;2021-06-04
3. Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism;Frontiers in Endocrinology;2021-03-19
4. First case of fetal goitrous hypothyroidism due to SLC5A5/NIS mutations;European Journal of Endocrinology;2020-11
5. Mapping of Ion and Substrate Binding Sites in Human Sodium Iodide Symporter (hNIS);Journal of Chemical Information and Modeling;2020-03-05
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