Article

Missense Mutations in the Human Nanophthalmos Gene <i>TMEM98</i> Cause Retinal Defects in the Mouse

2019-01-07

Abstract excerpt

<h4>ABSTRACT</h4> <h4>PURPOSE</h4> 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 eye phenotypes of these and Rwhs . <h4>METHODS</h4> The Rwhs mutation was identified...

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Literature Corpus work: a6e5f74a-b8d1-5ffc-b304-d8bb4d4b6470
DOI: 10.1101/513846

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