Yüklüyor......
A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family
Autosomal dominant optic atrophy (ADOA) is the most frequent form of hereditary optic neuropathy and occurs due to the degeneration of the retinal ganglion cells. To identify the genetic defect in a family with putative ADOA, we performed capture next generation sequencing (CNGS) to screen known ret...
Kaydedildi:
| Yayımlandı: | Sci Rep |
|---|---|
| Asıl Yazarlar: | , , , , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Nature Publishing Group
2014
|
| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4221781/ https://ncbi.nlm.nih.gov/pubmed/25374051 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep06936 |
| Etiketler: |
Etiketle
Etiket eklenmemiş, İlk siz ekleyin!
|