Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy

We report ophthalmic and genetic findings in families with autosomal recessive rod-cone dystrophy (arRCD) and RP1 mutations. Detailed ophthalmic examination was performed in 242 sporadic and arRCD subjects. Genomic DNA was investigated using our customized next generation sequencing panel targeting...

Descripción completa

Detalles Bibliográficos
Autores principales: El Shamieh, Said, Boulanger-Scemama, Elise, Lancelot, Marie-Elise, Antonio, Aline, Démontant, Vanessa, Condroyer, Christel, Letexier, Mélanie, Saraiva, Jean-Paul, Mohand-Saïd, Saddek, Sahel, José-Alain, Audo, Isabelle, Zeitz, Christina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4307388/
https://www.ncbi.nlm.nih.gov/pubmed/25692139
http://dx.doi.org/10.1155/2015/485624

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4307388/
https://www.ncbi.nlm.nih.gov/pubmed/25692139
http://dx.doi.org/10.1155/2015/485624

Ejemplares similares