Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism

BACKGROUND AND OBJECTIVES: Defects in the human sodium/iodide symporter (SLC5A5) gene have been reported to be one of the causes of congenital hypothyroidism (CH). We aimed to identify SLC5A5 mutations in Chinese patients with CH and to evaluate the function of the mutation. METHODS: Two hundred and...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Front Endocrinol (Lausanne)
Hoofdauteurs: Zhang, Cao-Xu, Zhang, Jun-Xiu, Yang, Liu, Zhang, Chang-Run, Cheng, Feng, Zhang, Rui-Jia, Fang, Ya, Wang, Zheng, Wu, Feng-Yao, Li, Pei-Zhang, Liang, Jun, Li, Rui, Song, Huai-Dong
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Frontiers Media S.A. 2021
Onderwerpen:
Endocrinology
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8018529/
https://ncbi.nlm.nih.gov/pubmed/33815280
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2021.620117
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items