| 项目编号 |
PRJCA015924 |
| 项目标题 |
The same heterozygous mutations in Col4A4 triggered different renal pathological changes in a Chinese family |
| 涉及领域 |
Medical |
| 数据类型 |
Whole genome sequencing
|
| 物种名称 |
Homo sapiens
|
| 描述信息 |
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. |
| 样品范围 |
Multiisolate |
| 发布日期 |
2023-03-29 |
| 出版信息 |
| PubMed ID |
文章标题 |
杂志名称 |
Doi |
发表年份 |
| 37323683
|
The same heterozygous Col4A4 mutation triggered different renal pathological changes in Chinese family members
|
Frontiers in Genetics
|
10.3389/fgene.2023.1180149
|
2023
|
|
|
| 项目资金来源 |
| 机构 |
项目类型 |
授权项目ID |
授权项目名称 |
| National Natural Science Foundation of China (NSFC)
|
General Program
|
8210074281800608
|
|
|
|
| 提交者 |
Fengming
Zhu (zhufm1988@163.com)
|
| 提交单位 |
Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology |
| 提交日期 |
2023-03-29 |
