中国结节性硬化症患者不同TSC基因突变类型与肾脏病变分析数据集

资源简介

中国结节性硬化症患者不同TSC基因突变类型与肾脏病变分析数据集

【数据集背景】

本数据集源站标题为《Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations》。配套论文《Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations》发表于 Genetics and Molecular Biology（2022），DOI：10.1590/1678-4685-gmb-2020-0387。源站首次发布：2022-05-28。

【数据内容】

源站原始描述：Abstract We sought to explore the relationship between renal lesion features and genetic mutations in tuberous sclerosis complex (TSC) patients. TSC patients with renal lesions were subjected to TSC1/2 gene next-generation sequencing (NGS). TSC1/2 mutation types and imaging examinations were screened for combined analysis of genetic and clinical features. Seventy-three probands among TSC patients with renal lesions were included. Twenty affected relatives were also included. In total, 93 patient…

【数据结构与技术规格】

文件数 9 个，合计 445.11 KB。数据集 DOI：10.6084/m9.figshare.19915228.v1。

【主题与分类】

源站学科分类：Biochemistry and Cell Biology not elsewhere classified、Genetics not elsewhere classified。主题标签：Tuberous sclerosis complex (TSC)、renal lesions、TSC1 mutations、TSC2 mutations。

【适用方向】

源站学科分类标注为 Biochemistry and Cell Biology not elsewhere classified、Genetics not elsewhere classified。

【获取与许可】

源站页面：https://scielo.figshare.com/articles/dataset/Analysis_of_renal_lesions_in_Chinese_tuberous_sclerosis_complex_patients_with_different_types_of_TSC_gene_mutations/19915228

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

规范引用：Wang, Wenda; Zhao, Yang; Wang, Xu; Wang, Zhan; Cai, Yi; Li, Hanzhong; et al. (2022). Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations. SciELO journals. Dataset

【使用注意】

· 源站最后修改于 2024-03-04，引用时请注意版本时效。