Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree

Retinitis pigmentosa (RP) causes progressive photoreceptor loss resulting from mutations in over 80 genes. This study identified the genetic cause of RP in three members of a non-consanguineous pedigree. Detailed ophthalmic evaluation was performed in the three affected family members. Whole exome s...

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Publicado en:Genes (Basel)
Main Authors: Gustafson, Kevin, Duncan, Jacque L., Biswas, Pooja, Soto-Hermida, Angel, Matsui, Hiroko, Jakubosky, David, Suk, John, Telenti, Amalio, Frazer, Kelly A., Ayyagari, Radha
Formato: Artigo
Idioma:Inglês
Publicado: MDPI 2017
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5615344/
https://ncbi.nlm.nih.gov/pubmed/28837078
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes8090210
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