| 样本编号 | SAMC2309291 |
|---|---|
| 外部数据库编号 | GSA-Human: HRS439824 |
| 样品名称 | F1_proband |
| 样本标题 | Novel heterozygous mutation in DES responsible for cardiomyopathy cardiomyopathy and sudden cardiac death in a Chinese family |
| 样品类型 | Human sample |
| 物种名称 | Homo sapiens |
| 描述信息 | We enrolled a Chinese family where the affected individuals suffered from cardiomyopathy and sudden cardiac death. The proband was selected for whole-exome sequencing to identify the pathogenic mutations in this family. |
| 样本属性 | *该样本包含更多受控访问信息，请通过GSA-Human系统申请项目HRA002969数据获取。 |
| 发布日期 | 2022-09-03 |
| 项目编号 | PRJCA011570 |
| 提交者 | Liangliang Fan (swfanliangliang@csu.edu.cn) |
| 提交单位 | Central South University |
| 提交日期 | 2023-06-18 |
| 资源名称 | 描述 |
|---|---|
| GSA-Human (1) | - |
| HRA002969 (Controlled Access) | We identified a novel DES mutation (p.E434K) in a Chinese family with cardiomyopathy and SCD. Our study not only provided a new case for the study of the relationship between DES mutations and hereditary cardiomyopathy, but also broadened the spectrum of DES mutations. |