MYH3基因尾部结构域突变与房间隔缺损相关研究数据集

资源简介

MYH3基因尾部结构域突变与房间隔缺损相关研究数据集

【数据集背景】

本数据集源站标题为《Mutations in the tail domain of MYH3 contributes to atrial septal defect》。配套论文《Mutations in the tail domain of MYH3 contributes to atrial septal defect》发表于 PLOS ONE（2020），DOI：10.1371/journal.pone.0230982。源站首次发布：2020-04-21。

【数据内容】

源站原始描述：Atrial septal defect (ASD) is one of the most common congenital heart defects diagnosed in children. Sarcomeric genes has been attributed to ASD and knockdown of MYH3 functionally homologues gene in chick models indicated abnormal atrial septal development. Here, we report for the first time, a case-control study investigating the role of MYH3 among non-syndromic ASD patients in contributing to septal development. Four amplicons which will amplifies the 40 kb MYH3 were designed and amplified usi…

【数据结构与技术规格】

文件数 3 个，合计 955.54 KB。pone.0230982.s001.pdf：application/pdf，324.65 KB。pone.0230982.s002.pdf：application/pdf，312.95 KB。pone.0230982.s003.pdf：application/pdf，317.95 KB。数据集 DOI：10.1371/journal.pone.0230982。

【主题与分类】

源站学科分类：Genetics、Molecular Biology、Environmental Sciences not elsewhere classified、Biological Sciences not elsewhere classified、Developmental Biology、Science Policy。主题标签：tail domain、atrial septal development、MYH 3、p.Ala 1192Thr、non-syndromic ASD patients、atrial septal defect Atrial septal defect、RMSD、MYH 3 variants、40 kb MYH 3、model。

【适用方向】

源站学科分类标注为 Genetics、Molecular Biology、Environmental Sciences not elsewhere classified、Biological Sciences not elsewhere classified、Developmental Biology、Science Policy。

【获取与许可】

源站页面：https://plos.figshare.com/articles/dataset/Mutations_in_the_tail_domain_of_i_MYH3_i_contributes_to_atrial_septal_defect/12169236

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

规范引用：Maran, Sathiya; Ee, Robson; Faten, Siti Aisyah; Bing, Choi Sy; Khaw, Kooi Yeong; Lim, Swee-Hua Erin; et al. (2020). Mutations in the tail domain of MYH3 contributes to atrial septal defect. PLOS ONE. Dataset

【使用注意】

· 源站最后修改于 2023-06-01，引用时请注意版本时效。