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Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1

PURPOSE: To identify the genetic basis of posterior polymorphous corneal dystrophy (PPCD) in families mapped to the PPCD1 locus and in affected individuals without ZEB1 coding region mutations. METHODS: The promoter, 5’ UTR, and coding regions of OVOL2 was screened in the PPCD family in which linkag...

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Detalles Bibliográficos
Autores principales:	Chung, Doug D., Frausto, Ricardo F., Cervantes, Aleck E., Gee, Katherine M., Zakharevich, Marina, Hanser, Evelyn M., Stone, Edwin M., Heon, Elise, Aldave, Anthony J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2017
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5207508/ https://www.ncbi.nlm.nih.gov/pubmed/28046031 http://dx.doi.org/10.1371/journal.pone.0169215

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