Corton, Marta <br/><br/>
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.  [electronic resource] 

 -  PloS one  2013 
 - e65574 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1932-6203 
<br/><br/><label>Standard No.: </label>10.1371/journal.pone.0065574  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>ATP-Binding Cassette Transporters--genetics<br/>Adaptor Proteins, Signal Transducing--genetics<br/>Cyclic Nucleotide-Gated Cation Channels--genetics<br/>Exome--genetics<br/>Extracellular Matrix Proteins--genetics<br/>Eye Proteins--genetics<br/>Female<br/>Genetic Predisposition to Disease--genetics<br/>Humans<br/>Leber Congenital Amaurosis--genetics<br/>Male<br/>Microtubule-Associated Proteins<br/>Nicotinamide-Nucleotide Adenylyltransferase--genetics<br/>Pedigree<br/>Retinal Dystrophies--genetics<br/>Retinitis Pigmentosa--genetics<br/>Spain<br/>Usher Syndromes--genetics