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Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways

To identify possible genetic variants influencing expression of EPHA2 (Ephrin-receptor Type-A2), a tyrosine kinase receptor that has been shown to be important for lens development and to contribute to both congenital and age related cataract when mutated, the extended promoter region of EPHA2 was s...

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Detalles Bibliográficos
Autores principales: Ma, Xiaoyin, Ma, Zhiwei, Jiao, Xiaodong, Hejtmancik, J. Fielding
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5577203/
https://www.ncbi.nlm.nih.gov/pubmed/28855599
http://dx.doi.org/10.1038/s41598-017-10117-3