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Novel Mutations in COL6A3 That Associated With Peters’ Anomaly Caused Abnormal Intracellular Protein Retention and Decreased Cellular Resistance to Oxidative Stress

Peters’ anomaly (PA) is a rare form of anterior segment dysgenesis characterized by central corneal opacity accompanied by iridocorneal or lenticulo-corneal adhesions. Although genetic mutations, particularly those affecting transcription factors that function in eye development, are known to cause...

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Detalles Bibliográficos
Autores principales: Li, Yue, Zhang, Jing, Dai, Yiqin, Fan, Yidan, Xu, Jianjiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7693641/
https://www.ncbi.nlm.nih.gov/pubmed/33304895
http://dx.doi.org/10.3389/fcell.2020.531986

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