Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma

Primary open-angle glaucoma (POAG) is a clinically important and genetically heterogeneous cause of progressive vision loss as a result of retinal ganglion cell death. Here we have utilized trio-based, whole-exome sequencing to identify the genetic defect underlying an autosomal dominant form of adu...

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Detalles Bibliográficos
Autores principales: Mackay, Donna S., Bennett, Thomas M., Shiels, Alan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498621/
https://www.ncbi.nlm.nih.gov/pubmed/26162006
http://dx.doi.org/10.1371/journal.pone.0132529

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498621/
https://www.ncbi.nlm.nih.gov/pubmed/26162006
http://dx.doi.org/10.1371/journal.pone.0132529

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