192例中国先天性甲状腺功能减退症患者SLC26A4基因突变筛查

资源简介

192例中国先天性甲状腺功能减退症患者SLC26A4基因突变筛查

【数据集背景】

本数据集源站标题为《Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism》。配套论文《Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism》发表于 Archives of Endocrinology and Metabolism（2016），DOI：10.1590/2359-3997000000108。源站首次发布：2018-12-26。

【数据内容】

源站原始描述：ABSTRACT Objective Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin. Hypothyroidism in PS can be present from birth and therefore diagnosed by neonatal screening. The aim of this study was to examine the SLC26A4 mutation spectrum and prevalence among congenital hypothyroidism (CH) patients in the Guangxi Zhuang Autonomous Region of China…

【数据结构与技术规格】

文件数 2 个，合计 156.01 KB。数据集 DOI：10.6084/m9.figshare.7517477.v1。

【主题与分类】

源站学科分类：Medicine、Endocrinology。主题标签：Congenital hypothyroidism、Pendred syndrome、SLC26A4、gene mutations、China。

【适用方向】

源站学科分类标注为 Medicine、Endocrinology。

【获取与许可】

源站页面：https://scielo.figshare.com/articles/dataset/Mutation_screening_of_the_SLC26A4_gene_in_a_cohort_of_192_Chinese_patients_with_congenital_hypothyroidism/7517477

使用许可：CC BY 4.0（https://creativecommons.org/licenses/by/4.0/）。

规范引用：Fu, Chunyun; Zheng, Haiyang; Zhang, Shujie; Chen, Yun; Su, Jiasun; Wang, Jin; et al. (2016). Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism. SciELO journals. Dataset

【使用注意】

· 源站最后修改于 2024-02-13，引用时请注意版本时效。