TY  - JOUR
AU  - Bravo-Gil, Nereida
AU  - Méndez-Vidal, Cristina
AU  - Romero-Pérez, Laura
AU  - González-del Pozo, María
AU  - Rodríguez-de la Rúa, Enrique
AU  - Dopazo, Joaquín
AU  - Borrego, Salud
AU  - Antiñolo, Guillermo
PY  - 2016
DO  - 10.1038/srep23910
UR  - http://hdl.handle.net/10668/9963
T2  - Scientific reports
AB  - Next-generation sequencing (NGS) has overcome important limitations to the molecular diagnosis of Inherited Retinal Dystrophies (IRD) such as the high clinical and genetic heterogeneity and the overlapping phenotypes. The purpose of this study was the...
LA  - en
KW  - Alleles
KW  - Computer Simulation
KW  - DNA Copy Number Variations
KW  - DNA Mutational Analysis
KW  - Eye Proteins
KW  - Gene Library
KW  - Genetic Association Studies
KW  - Genetic Heterogeneity
KW  - Genetic Therapy
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Mutation
KW  - Phenotype
KW  - Retinal Dystrophies
TI  - Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.
TY  - research article
VL  - 6
ER  -