The same heterozygous Col4A4 mutation triggered different renal pathological changes in Chinese family members
| 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 |
The data cannot be downloaded as it has not yet been registered in the Human Genetic Resource Management Platform of MOST.
| File ID | File Title | Number/Samples | File Type | File Size | File Suffix | Download Times | Download |
|---|---|---|---|---|---|---|---|
| OMIX004157-01 | 17B0516885-1_SNP_INDEL | 1 | Other Type of Genomic Data | 13.1 MB | xls | 0 | Unavailable |