ロード中...
Breakpoint characterization of a novel ∼59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance
The aim of this study was to identify and characterize the underlying molecular mechanisms in autosomal-dominant retinitis pigmentosa (adRP) with incomplete penetrance in two Swedish families. An extended genealogical study and haplotype analysis indicated a common origin. Mutation identification wa...
保存先:
| 主要な著者: | , , , , , , , |
|---|---|
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group
2009
|
| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2796252/ https://ncbi.nlm.nih.gov/pubmed/19050727 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.223 |
| 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!
|