| 样本编号 | SAMC3448399 |
|---|---|
| 外部数据库编号 | GSA-Human: HRS1188558 |
| 样品名称 | III-9 blood |
| 样本标题 | III-9 blood |
| 样品类型 | Human sample |
| 物种名称 | Homo sapiens |
| 描述信息 | The proband exhibited typical clinical manifestation of PSP. A gene test by whole-exome sequencing identified a novel heterozygous deletion (G342L MAPT mutation), and the same mutation was also identified in one affected relative and one asymptomatic relative, a probable pre-symptomatic carrier. |
| 样本属性 | *由于样本关联的数据集HRA006913尚未在科技部完成人类遗传资源信息备案，本页面只展示部分样本信息。 |
| 发布日期 | 2024-04-19 |
| 项目编号 | PRJCA024342 |
| 提交者 | yanfeng Li (2279519105@qq.com) |
| 提交单位 | Peking Union Medical College Hospital |
| 提交日期 | 2024-03-19 |
| 资源名称 | 描述 |
|---|---|
| GSA-Human (1) | - |
| HRA006913 (Open Access) | A Novel G342L MAPT mutation in familial Progressive Supranuclear Palsy Syndrome |