Whole Exome Sequencing Reveals Genetic Predisposition in a Large Family with Retinitis Pigmentosa

Next-generation sequencing has become more widely used to reveal genetic defect in monogenic disorders. Retinitis pigmentosa (RP), the leading cause of hereditary blindness worldwide, has been attributed to more than 67 disease-causing genes. Due to the extreme genetic heterogeneity, using general m...

Descripción completa

Detalles Bibliográficos
Autores principales: Wu, Juan, Chen, Lijia, Tam, Oi Sin, Huang, Xiu-Feng, Pang, Chi-Pui, Jin, Zi-Bing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Clinical Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102027/
https://www.ncbi.nlm.nih.gov/pubmed/25101269
http://dx.doi.org/10.1155/2014/302487

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102027/
https://www.ncbi.nlm.nih.gov/pubmed/25101269
http://dx.doi.org/10.1155/2014/302487

Ejemplares similares