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Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism

PURPOSE: Specific haplotypes (LVAVA, LIVVA, and LIAVA) formed by five polymorphisms (p.L153M, p.V171I, p.A174V, p.I178V, and p.S180A in exon 3 of OPN1LW) that cause partial or complete exon skipping have been reported as unique genetic causes of high myopia with or without colorblindness. This study...

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Detalles Bibliográficos
Autores principales: Wang, Yingwei, Sun, Wenmin, Xiao, Xueshan, Jiang, Yi, Ouyang, Jiamin, Wang, Junwen, Yi, Zhen, Li, Shiqiang, Jia, Xiaoyun, Wang, Panfeng, Hejtmancik, J. Fielding, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10148663/
https://www.ncbi.nlm.nih.gov/pubmed/37097228
http://dx.doi.org/10.1167/iovs.64.4.29