1 results match your criteria: "Spain 2Center of Biomedical Network Research on Rare Diseases (CIBERER)[Affiliation]"
Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.
Invest Ophthalmol Vis Sci
April 2015
Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain 2Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
Article Synopsis
- * Out of 59 families analyzed, 31 candidate variants were identified, with 17 mutations determined to be causative of RP; 64% of these mutations were newly discovered.
- * The findings not only classified 16 families based on mutations detected (27% success rate), but also provided insights into genetic reclassification of some cases, highlighting the effectiveness of NGS in studying retinal dystrophies.