| Accession |
SAMC2271815 |
| Accession in Other Database |
GSA-Human: HRS431490 |
| Sample name |
F1_proband |
| Title |
Novel heterozygous mutation in COL4A4 responsible for Alport syndrome in a Chinese family |
| Sample type |
Human sample |
| Organism |
Homo sapiens |
| Description |
We enrolled a Chinese family where the affected individuals suffered from recurrent hematuria and proteinuria. The proband was selected for whole-exome sequencing to identify the pathogenic mutations in this family. |
| Attributes |
*Only part of the sample information is displayed on this page because the related dataset HRA002787 has not yet been registered in the Human Genetic Resource Management Platform of MOST.
|
| Release date |
2022-08-09 |
| BioProject Accession |
PRJCA011031 |
| Submitter |
Hao Huang (xyskhuanghao@csu.edu.cn)
|
| Organization |
Central South University |
| Submission date |
2023-06-18 |
