| Accession |
PRJCA015924 |
| Title |
The same heterozygous mutations in Col4A4 triggered different renal pathological changes in a Chinese family |
| Relevance |
Medical |
| Data types |
Whole genome sequencing
|
| Organisms |
Homo sapiens
|
| 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. |
| Sample scope |
Multiisolate |
| Release date |
2023-03-29 |
| Publication |
| PubMed ID |
Article title |
Journal name |
DOI |
Year |
| 37323683
|
The same heterozygous Col4A4 mutation triggered different renal pathological changes in Chinese family members
|
Frontiers in Genetics
|
10.3389/fgene.2023.1180149
|
2023
|
|
|
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| National Natural Science Foundation of China (NSFC)
|
General Program
|
8210074281800608
|
|
|
|
| Submitter |
Fengming
Zhu (zhufm1988@163.com)
|
| Organization |
Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology |
| Submission date |
2023-03-29 |
