Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders
Genetic disorders of the skeleton comprise a large group of more than 450 clinically distinct and genetically heterogeneous diseases associated with mutations in more than 300 genes. Achieving a definitive diagnosis is complicated due to the genetic heterogeneity of these disorders, their individual...
Saved in:
| Main Authors: | , , , , , , , , , , |
|---|---|
| 格式: | Artigo |
| 语言: | 英语 |
| 出版: |
2015
|
| 在线阅读: | https://doi.org/10.1371/journal.pone.0138314 https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0138314&type=printable |
| 标签: |
添加标签
没有标签, 成为第一个标记此记录!
|