| 项目编号 |
PRJCA013814 |
| 项目标题 |
Limb girdle muscular dystrophy 23 caused by compound heterozygous LAMA 2 mutations |
| 涉及领域 |
Medical |
| 数据类型 |
Whole genome sequencing
|
| 物种名称 |
Homo sapiens
|
| 描述信息 |
Our data expanded the spectrum of pathogenic mutations in LGMD23 and put new insights into the genetic counseling, prenatal diagnosis and preimplantation genetic testing (PGT) for the disease. |
| 样品范围 |
Monoisolate |
| 发布日期 |
2023-06-16 |
| 出版信息 |
| PubMed ID |
文章标题 |
杂志名称 |
Doi |
发表年份 |
| 37404563
|
Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene
|
Frontiers in Pediatrics
|
10.3389/fped.2023.1191068
|
2023
|
|
|
| 项目资金来源 |
| 机构 |
项目类型 |
授权项目ID |
授权项目名称 |
| National Natural Science Foundation of China (NSFC)
|
|
81901382
|
|
| National Natural Science Foundation of China (NSFC)
|
|
82171848
|
|
|
|
| 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 |
2022-12-10 |
