ロード中...
Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm
Pathogenic germline mutations in ELN can be detected in patients with supravalvular aortic stenosis. The mutation might occur de novo or be inherited following an autosomal dominant pattern of inheritance. In this report we describe a three-generation family suffering from supravalvular aortic steno...
保存先:
| 出版年: | Eur J Med Genet |
|---|---|
| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2016
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5843366/ https://ncbi.nlm.nih.gov/pubmed/27866049 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2016.11.004 |
| 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!
|