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...
Uloženo v:
| Hlavní autoři: | , , , , , , , , , , |
|---|---|
| Médium: | Artigo |
| Jazyk: | angličtina |
| Vydáno: |
2015
|
| On-line přístup: | https://doi.org/10.1371/journal.pone.0138314 https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0138314&type=printable |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!
|