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

El Shamieh S, Boulanger-Scemama E, Lancelot ME, Antonio A, Demontant V, Condroyer C, Letexier M, Saraiva JP, Mohand-Said S, Sahel JA, Audo I, Zeitz C. Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy. Biomed Res Int. 2015.  Epub 2015 Jan 6.

PubMed ID: 
25692139