PAX2及其他基因突变与肾缺损综合征临床表现的关联研究数据集

资源简介

PAX2及其他基因突变与肾缺损综合征临床表现的关联研究数据集

【数据集背景】

本数据集源站标题为《Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome》。配套论文《Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome》发表于 PLOS ONE（2015），DOI：10.1371/journal.pone.0142843。源站首次发布：2015-11-16。

【数据内容】

源站原始描述：Background Renal coloboma syndrome (RCS) is characterized by renal anomalies and optic nerve colobomas. PAX2 mutations contribute to RCS. However, approximately half of the patients with RCS have no mutation in PAX2 gene. Methods To investigate the incidence and effects of mutations of PAX2 and 25 candidate genes, patient genes were screened using next-generation sequence analysis, and candidate mutations were confirmed using Sanger sequencing. The correlation between mutations and clinical mani…

【数据结构与技术规格】

文件数 3 个，合计 16.01 MB。S1_Fig.ppt：application/vnd.ms-powerpoint，500.22 KB。数据集 DOI：10.1371/journal.pone.0142843。

【主题与分类】

源站学科分类：Uncategorised。主题标签：six、chd、fsgs、PAX 2 mutations、PAX 2、Sanger sequencing、sequence variants、Renal Coloboma Syndrome BackgroundRenal coloboma syndrome、kidney biopsies.ConclusionThe results、sall。

【适用方向】

源站学科分类标注为 Uncategorised。

【获取与许可】

源站页面：https://plos.figshare.com/articles/dataset/_Association_of_PAX2_and_Other_Gene_Mutations_with_the_Clinical_Manifestations_of_Renal_Coloboma_Syndrome_/1603851

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

规范引用：Okumura, Toshiya; Furuichi, Kengo; Higashide, Tomomi; Sakurai, Mayumi; Hashimoto, Shin-ichi; Shinozaki, Yasuyuki; et al. (2016). Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome. PLOS ONE. Dataset

【使用注意】

· 源站最后修改于 2023-05-30，引用时请注意版本时效。