Targeted exome capture and sequencing identifies novel PRPF31 mutations in autosomal dominant retinitis pigmentosa in Chinese families

OBJECTIVES: To identify disease-causing mutations in two Chinese families with autosomal dominant retinitis pigmentosa (adRP). DESIGN: Prospective analysis. PATIENTS: Two Chinese adRP families underwent genetic diagnosis. A specific hereditary eye disease enrichment panel (HEDEP) based on targeted e...

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Detalles Bibliográficos
Autores principales: Yang, Liping, Yin, Xiaobei, Wu, Lemeng, Chen, Ningning, Zhang, Huirong, Li, Genlin, Ma, Zhizhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2013
Materias:
Ophthalmology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3822309/
https://www.ncbi.nlm.nih.gov/pubmed/24202059
http://dx.doi.org/10.1136/bmjopen-2013-004030

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3822309/
https://www.ncbi.nlm.nih.gov/pubmed/24202059
http://dx.doi.org/10.1136/bmjopen-2013-004030

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