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Insufficient Dose of ERCC8 Protein Caused by a Frameshift Mutation Is Associated With Keratoconus With Congenital Cataracts
PURPOSE: The purpose of this study was to identify a new candidate gene for keratoconus and congenital cataracts and further investigate its underlying pathogenic mechanisms. METHODS: This study, using a Chinese family with keratoconus and congenital cataracts, 262 patients with sporadic keratoconus...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Association for Research in Vision and Ophthalmology
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9728497/ https://www.ncbi.nlm.nih.gov/pubmed/36454558 http://dx.doi.org/10.1167/iovs.63.13.1 |