Genotype and Phenotype Analyses in Patients with Renal Hypouricemia: A Single-center Study
| Title | Genotype and Phenotype Analyses in Patients with Renal Hypouricemia: A Single-center Study |
|---|---|
| Description | 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. |
| Organism | Homo sapiens |
| Data Type | Other Type of Genomic Data |
| Data Accessibility | Controlled-access |
| BioProject | PRJCA010696 |
| Release Date | 2023-06-01 |
| Submitter | Lijun Mou (moulj511@zju.edu.cn) |
| Organization | The Second Affiliated Hospital, Zhejiang University School of Medicine |
| Submission Date | 2022-07-24 |
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 |
|---|---|---|---|---|---|---|---|
| OMIX001373-02 | Genetic analysis report of Patients 1-19 | 1 | Other Type of Genomic Data | 43.4 KB | docx | 0 | Unavailable |