| 样本编号 | SAMC4936939 |
|---|---|
| 外部数据库编号 | GSA-Human: HRS1639192 |
| 样品名称 | M2400 Bonyan |
| 样本标题 | FERMT3-E12-R |
| 样品类型 | Human sample |
| 物种名称 | Homo sapiens |
| 描述信息 | Sequencing data of a patient with LAD III with a mutation in exon 12 of FERMT3 gene. |
| 样本属性 | *由于样本关联的数据集HRA010821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 | 2025-04-02 |
| 项目编号 | PRJCA037528 |
| 提交者 | Mohammad Saberi (m.saberi1988@gmail.com) |
| 提交单位 | Tehran University of Medical Sciences |
| 提交日期 | 2025-04-02 |
| 资源名称 | 描述 |
|---|---|
| GSA-Human (1) | - |
| HRA010821 (Open Access) | This report presents a 20-month-old male with leukocyte adhesion deficiency, type III (LAD3), a very rare form of LAD who developed small bowel perforation associated with prolonged bleeding following the surgery. |