Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa

Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited retinal diseases caused by the loss of photoreceptors. The present study aimed to identify the gene mutations responsible for RP in two patients diagnosed with sporadic RP using next-generation sequencing technology. For this pur...

Descripción completa

Detalles Bibliográficos
Autores principales: LIU, SANMEI, XIE, LAN, YUE, JUN, MA, TAO, PENG, CHUNYAN, QIU, BIYUAN, YANG, ZHENGLIN, YANG, JIYUN
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2016
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4866957/
https://www.ncbi.nlm.nih.gov/pubmed/27082927
http://dx.doi.org/10.3892/ijmm.2016.2551

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4866957/
https://www.ncbi.nlm.nih.gov/pubmed/27082927
http://dx.doi.org/10.3892/ijmm.2016.2551

Ejemplares similares