A Novel Mutation in the Sodium/Iodide Symporter Gene in the Largest Family with Iodide Transport Defect-Reference-Cited by-同舟云学术

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A Novel Mutation in the Sodium/Iodide Symporter Gene in the Largest Family with Iodide Transport Defect

Published:1999-09-01 Issue:9 Volume:84 Page:3248-3253
ISSN:0021-972X
Container-title:Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:Journal of Clinical Endocrinology & Metabolism

Author:

Kosugi S.

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Cited by 44 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism;Frontiers in Endocrinology;2021-03-19

2. High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis;Frontiers in Endocrinology;2021-02-22

3. Mapping of Ion and Substrate Binding Sites in Human Sodium Iodide Symporter (hNIS);Journal of Chemical Information and Modeling;2020-03-05

4. Relevance of solute carrier family 5 transporter defects to inherited and acquired human disease;Journal of Applied Genetics;2019-07-08

5. High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism;PLOS ONE;2018-09-21

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