| Title |
Spectrum of Mutations in A Large Chinese Gitelman Syndrome Cohort |
| Description |
165 patients with Gitelman syndrome from 160 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.we searched for large rearrangements by multiplex ligation dependent probe amplification (MLPA) in patients with suspected large rearrangement in SLC12A3. |
| Organism |
Homo sapiens |
| Data Type |
Other Type of Genomic Data |
| Data Accessibility |
Controlled-access |
| BioProject |
PRJCA012985 |
| Release Date |
2024-12-31 |
| Submitter |
Lijun Mou (moulj511@zju.edu.cn) |
| Organization |
The Second Affiliated Hospital, Zhejiang University School of Medicine |
| Submission Date |
2022-11-05 |