Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models

MYOC is a common pathogenic gene for primary open-angle glaucoma and encodes the protein named myocilin. Multiple MYOC variations have been found, with different clinical significance. However, the pathogenesis of glaucoma induced by MYOC mutations has not been fully clarified. Here, we analyze the...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhou, Biting, Lin, Xiaojia, Li, Zhong, Yao, Yihua, Yang, Juhua, Zhu, Yihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9577182/
https://www.ncbi.nlm.nih.gov/pubmed/36267417
http://dx.doi.org/10.3389/fgene.2022.1019208

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9577182/
https://www.ncbi.nlm.nih.gov/pubmed/36267417
http://dx.doi.org/10.3389/fgene.2022.1019208

Ejemplares similares