ロード中...
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia
In this study we assess exome sequencing (ES) as a diagnostic alternative for genetically heterogeneous disorders. Since ES readily identified a previously reported homozygous mutation in the CAPN3 gene for an individual with an undiagnosed limb girdle muscular dystrophy, we evaluated ES as a genera...
保存先:
| 主要な著者: | , , , , , , , , , , , |
|---|---|
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2012
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3329376/ https://ncbi.nlm.nih.gov/pubmed/22311686 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22032 |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|