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Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract
PURPOSE: Congenital cataracts occur in 3–4 per 10,000 live births and account for 5% to 20% of pediatric blindness worldwide. With more than 37 genes known to be associated with isolated congenital cataract, whole exome sequencing (WES) was recently introduced as an efficient method for screening al...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2014
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4057250/ https://www.ncbi.nlm.nih.gov/pubmed/24940039 |