| Accession |
PRJCA010696 |
| Title |
Genotype and Phenotype Analyses in Patients with Renal Hypouricemia: A Single-center Study |
| Relevance |
Medical |
| Data types |
Phenotype or Genotype
|
| Organisms |
Homo sapiens
|
| Description |
Renal hypouricemia (RHUC), a rare inherited disorder characterized by impaired uric acid (UA) reabsorption in the proximal tubule and subsequent profound hypouricemia, is mainly due to mutations in SLC22A12 or SLC2A9. Nineteen patients with RHUC from seventeen unrelated families were recruited from our center. The medical history, clinical manifestations, biochemical exam, and clinical outcomes of these patients were collected. Next generation sequencing (NGS)-based targeted gene sequencing (TES) or whole exon sequencing was performed to determine the causal genes or new mutations. |
| Sample scope |
Multiisolate |
| Release date |
2022-07-21 |
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| Program of Ningxia Hui Autonomous Region
|
Key Program
|
2018BFG0210
|
|
| Zhejiang Medical and Health Science and Technology Project
|
|
2018KY080
|
|
|
|
| Submitter |
Lijun
Mou (moulj511@zju.edu.cn)
|
| Organization |
The Second Affiliated Hospital, Zhejiang University School of Medicine |
| Submission date |
2022-07-21 |
