TY  - GEN
AU  - Corton,Marta
AU  - Nishiguchi,Koji M
AU  - Avila-Fernández,Almudena
AU  - Nikopoulos,Konstantinos
AU  - Riveiro-Alvarez,Rosa
AU  - Tatu,Sorina D
AU  - Ayuso,Carmen
AU  - Rivolta,Carlo
TI  - Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis
SN  - 1932-6203
PY  - 2014///0114
KW  - ATP-Binding Cassette Transporters
KW  - genetics
KW  - Adaptor Proteins, Signal Transducing
KW  - Cyclic Nucleotide-Gated Cation Channels
KW  - Exome
KW  - Extracellular Matrix Proteins
KW  - Eye Proteins
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Leber Congenital Amaurosis
KW  - Male
KW  - Microtubule-Associated Proteins
KW  - Nicotinamide-Nucleotide Adenylyltransferase
KW  - Pedigree
KW  - Retinal Dystrophies
KW  - Retinitis Pigmentosa
KW  - Spain
KW  - Usher Syndromes
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1371/journal.pone.0065574
ER  -