ロード中...
Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion
BACKGROUND: CYP1B1 variants and deletions are the most common cause of primary congenital glaucoma (PCG). METHODS: We investigated an individual with PCG from the Australian and New Zealand Registry of Advanced Glaucoma. We performed sequencing of the CYP1B1 gene, followed by Multiplex Ligation‐depe...
保存先:
| 出版年: | Mol Genet Genomic Med |
|---|---|
| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2019
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6687653/ https://ncbi.nlm.nih.gov/pubmed/31251480 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.774 |
| 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!
|