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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Biomed Res Int
Main Authors: 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
פורמט: Artigo
שפה:Inglês
יצא לאור: Hindawi Publishing Corporation 2015
נושאים:
Research Article
גישה מקוונת: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
תגים: הוספת תג
אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!

פריטים דומים