| Title |
The same heterozygous Col4A4 mutation triggered different renal pathological changes in Chinese family members |
| Description |
In this study, we identified a new mutation site for Col4A4 in a Chinese family. Interestingly, the same genetic mutation showed different pathological changes in the kidney among different family members. Our study provides a new mutant spectrum for inherited kidney disease and highlignts the importance of the genetic changes combined with kidney pathology in the diagnosis and treatment of kidney disease. |
| Organism |
Homo sapiens |
| Data Type |
Other Type of Genomic Data |
| Data Accessibility |
Open-access |
| BioProject |
PRJCA015924 |
| Release Date |
2023-05-26 |
| Submitter |
Fengming Zhu (zhufm1988@163.com) |
| Organization |
Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology |
| Submission Date |
2023-05-24 |