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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Detalles Bibliográficos
Autores principales: Gustafson, Kevin, Duncan, Jacque L., Biswas, Pooja, Soto-Hermida, Angel, Matsui, Hiroko, Jakubosky, David, Suk, John, Telenti, Amalio, Frazer, Kelly A., Ayyagari, Radha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5615344/
https://www.ncbi.nlm.nih.gov/pubmed/28837078
http://dx.doi.org/10.3390/genes8090210

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5615344/
https://www.ncbi.nlm.nih.gov/pubmed/28837078
http://dx.doi.org/10.3390/genes8090210

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