ロード中...
Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death
Pediatric cardiomyopathy is a rare but severe disease with high morbidity and mortality. The causes are poorly understood and can only be established in one-third of cases. Recent advances in genetic technologies, specifically next-generation sequencing, now allow for the detection of genetic causes...
保存先:
| 出版年: | Eur J Hum Genet |
|---|---|
| 主要な著者: | , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group
2017
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5477358/ https://ncbi.nlm.nih.gov/pubmed/28295041 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.22 |
| 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!
|