| 项目编号 |
PRJCA040889 |
| 项目标题 |
The Clinical and Genetic Profiles of Spinal Muscular Atrophy with Respiratory Distress Type 1 and Identification A Novel Mutation in IGHMBP2 in China |
| 涉及领域 |
Medical |
| 数据类型 |
Whole genome sequencing
|
| 物种名称 |
Homo sapiens
|
| 描述信息 |
This study is prepared to publish clinical research on rare disease cases. |
| 样品范围 |
human peripheral blood |
| 发布日期 |
2025-06-25 |
| 出版信息 |
| PubMed ID |
文章标题 |
杂志名称 |
Doi |
发表年份 |
|
|
The Clinical and Genetic Profiles of Spinal Muscular Atrophy with Respiratory Distress Type 1 and Identification A Novel Mutation in IGHMBP2 in China
|
Frontiers in Genetics
|
10.3389/fgene.2025.1594265
|
2025
|
| 40686563
|
The clinical and genetic profiles of spinal muscular atrophy with respiratory distress type 1 and identification of a novel mutation in IGHMBP2 in China
|
Frontiers in Genetics
|
10.3389/fgene.2025.1594265
|
2025
|
|
|
| 项目资金来源 |
| 机构 |
项目类型 |
授权项目ID |
授权项目名称 |
| No funding support
|
|
|
|
|
|
| 提交者 |
Shufang
Xiao (xiaosf62@126.com)
|
| 提交单位 |
Kunming Children's Hospital |
| 提交日期 |
2025-05-30 |
