Investigating the pathogenicity of missense mutations in VSX1 and their association with corneal dystrophies
Two corneal dystrophies, posterior polymorphous corneal dystrophy (PPCD) and keratoconus, have been associated with missense mutations found in the transcription factor-encoding gene Visual System Homeobox 1 (VSX1). Despite this association, the pathogenic link between VSX1 and these diseases remain...
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| Format: | Others |
| Language: | English en |
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2018
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| Online Access: | https://dspace.library.uvic.ca//handle/1828/9342 |