| 样本编号 | SAMC2541522 |
|---|---|
| 外部数据库编号 | GSA-Human: HRS797724 |
| 样品名称 | S1-22B01277464 |
| 样本标题 | Peripheral blood cell of S1-22B01277464 |
| 样品类型 | Human sample |
| 物种名称 | Homo sapiens |
| 描述信息 | The father of the proband |
| 样本属性 | *该样本包含更多受控访问信息，请通过GSA-Human系统申请项目HRA004334数据获取。 |
| 发布日期 | 2023-06-16 |
| 项目编号 | PRJCA013814 |
| 提交者 | Minyue Dong (dongmy@zju.edu.cn) |
| 提交单位 | Women's hospital, School of Medicine, Zhejiang University |
| 提交日期 | 2023-06-18 |
| 资源名称 | 描述 |
|---|---|
| GSA-Human (1) | - |
| HRA004334 (Controlled Access) | Herein, compound heterozygous mutations of LAMA2: c.1693C>T (maternally inherited) and c.9212-6T>G (paternally inherited) were identified in a Chinese girl diagnosed as LGMD23. |