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Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse
PURPOSE: We previously found a dominant mutation, Rwhs, causing white spots on the retina accompanied by retinal folds. Here we identify the mutant gene to be Tmem98. In humans, mutations in the orthologous gene cause nanophthalmos. We modelled these mutations in mice and characterised the mutant ey...
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| Publié dans: | Invest Ophthalmol Vis Sci |
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| Auteurs principaux: | , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2019
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6986908/ https://ncbi.nlm.nih.gov/pubmed/31266059 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.18-25954 |
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