Nalaganje...
Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy
Inherited optic neuropathies are a heterogeneous group of disorders characterized by mild to severe visual loss, colour vision deficit, central or paracentral visual field defects and optic disc pallor. Optic atrophies can be classified into isolated or non-syndromic and syndromic forms. While multi...
Shranjeno v:
| izdano v: | Genet Res (Camb) |
|---|---|
| Main Authors: | , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Cambridge University Press
2016
|
| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6865152/ https://ncbi.nlm.nih.gov/pubmed/27265430 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/S0016672316000070 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|