Exclusion of pathogenic promoter region variants and identification of novel nonsense mutations in the zinc finger E-box binding homeobox 1 gene in posterior polymorphous corneal dystrophy

PURPOSE: To report the identification of five novel nonsense mutations in the zinc finger E-box binding homeobox 1 (ZEB1) gene and exclusion of promoter region mutations in individuals without ZEB1 coding region mutations in posterior polymorphous corneal dystrophy (PPCD). METHODS: Slit-lamp examina...

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Detalles Bibliográficos
Autores principales: Bakhtiari, Pejman, Frausto, Ricardo F., Roldan, Ashley N., Wang, Cynthia, Yu, Fei, Aldave, Anthony J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3611940/
https://www.ncbi.nlm.nih.gov/pubmed/23559851

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