ロード中...
Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis
PURPOSE: We comprehensively evaluated the mutational spectrum of Leber congenital amaurosis (LCA) and investigated the molecular diagnostic rate and genotype–phenotype correlation in a Korean cohort. METHODS: This single-center retrospective case series included 50 Korean patients with LCA between J...
保存先:
| 出版年: | Mol Vis |
|---|---|
| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Molecular Vision
2020
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7043639/ https://ncbi.nlm.nih.gov/pubmed/32165824 |
| 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!
|