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A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies

PURPOSE: The aim of this study was to detect the genetic defects in a large pedigree of affected individuals with various phenotypes of ocular anomalies including partial aniridia, congenital cataract, and nystagmus. METHODS: The entire coding region of paired box gene 6 (PAX6) was amplified by poly...

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Detalles Bibliográficos
Autores principales:	Torkashvand, Ali, Mohebbi, Masoomeh, Hashemi, Hassan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127359/ https://www.ncbi.nlm.nih.gov/pubmed/30197953 http://dx.doi.org/10.1016/j.joco.2017.12.006

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