The genotype of mucopolysaccharidosis type II
| Title | The genotype of mucopolysaccharidosis type II |
|---|---|
| Description | This comprehensive study of the molecular profile of the MPS II cases in China sheds light on the genotype phenotype correlation and helps the better understanding of the disease and the prediction of its clinical course, assisting decision making in the selection of therapeutic regimen. |
| Organism | Homo sapiens |
| Data Type | Expression Profiling by NGS |
| Data Accessibility | Open-access |
| BioProject | PRJCA019759 |
| Release Date | 2023-10-31 |
| Submitter | Jianmin Wang (smilejianmin@sina.com) |
| Organization | Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine |
| Submission Date | 2023-09-14 |
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 |
|---|---|---|---|---|---|---|---|
| OMIX004916-02 | SCMC MPS II diagnosis | 57 | Expression Profiling by NGS | 11.2 KB | xlsx | 0 | Unavailable |