| Accession |
PRJCA012227 |
| Title |
Doubly variants of MTHFR and MTHFD1 |
| Relevance |
Medical |
| Data types |
Exome
|
| Organisms |
Homo sapiens
|
| Description |
We used WES to evaluate the genetic cause in a Chinese family with hereditary HHcy and revealed that doubly bi-allelic variants of MTHFR and MTHFD1 genes can result in HHcy phenotype with failure of folic acid therapy. |
| Sample scope |
Monoisolate |
| Release date |
2022-09-29 |
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| National Natural Science Foundation of China (NSFC)
|
|
82000427
|
|
|
|
| Submitter |
Liangliang
Fan (swfanliangliang@csu.edu.cn)
|
| Organization |
Central South University |
| Submission date |
2022-09-29 |
