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...

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Detalles Bibliográficos
Autores principales: Hao, Xiao-Dan, Yao, Yi-Zhi, Xu, Kai-Ge, Dong, Bin, Xu, Wen-Hua, Zhang, Jing-Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2022
Materias:
Cornea
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

Internet

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

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