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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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Détails bibliographiques
Publié dans:Invest Ophthalmol Vis Sci
Auteurs principaux: Cross, Sally H., Mckie, Lisa, Keighren, Margaret, West, Katrine, Thaung, Caroline, Davey, Tracey, Soares, Dinesh C., Sanchez-Pulido, Luis, Jackson, Ian J.
Format: Artigo
Langue:Inglês
Publié: 2019
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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