| Accession | HRS431490 |
|---|---|
| BioSample Accession | SAMC2271815 |
| Individual accession | HRI269774 |
| Study accession | HRA002787 |
| Sample name | F1_proband |
| Title | Novel heterozygous mutation in COL4A4 responsible for Alport syndrome in a Chinese family |
| Collection date | 2018-12-01 |
| Sample Type | Disease |
| 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. |