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...

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Vydáno v:Biomed Res Int
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2015
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4307388/
https://ncbi.nlm.nih.gov/pubmed/25692139
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/485624
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