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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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Detalhes bibliográficos
Publicado no:Invest Ophthalmol Vis Sci
Main Authors: Cross, Sally H., Mckie, Lisa, Keighren, Margaret, West, Katrine, Thaung, Caroline, Davey, Tracey, Soares, Dinesh C., Sanchez-Pulido, Luis, Jackson, Ian J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Acesso em linha: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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