| Accession |
PRJCA011570 |
| Title |
A novel DES mutation in cardiomyopathy |
| Relevance |
Medical |
| Data types |
Exome
|
| Organisms |
Homo sapiens
|
| Description |
We employed WES to explore the genetic lesion of a Chinese family with cardiomyopathy and SCD. A novel mutation in DES gene was detected. Our study not only provided data for genetic counseling and clinical diagnosis to this family, but also broadened the spectrum of DES mutations. |
| Sample scope |
Monoisolate |
| Release date |
2022-08-31 |
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| National Natural Science Foundation of China (NSFC)
|
|
81800220
|
|
|
|
| Submitter |
Liangliang
Fan (swfanliangliang@csu.edu.cn)
|
| Organization |
Central South University |
| Submission date |
2022-08-31 |
