Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis. [electronic resource]
Producer: 20140114Description: e65574 p. digitalISSN:- 1932-6203
- ATP-Binding Cassette Transporters -- genetics
- Adaptor Proteins, Signal Transducing -- genetics
- Cyclic Nucleotide-Gated Cation Channels -- genetics
- Exome -- genetics
- Extracellular Matrix Proteins -- genetics
- Eye Proteins -- genetics
- Female
- Genetic Predisposition to Disease -- genetics
- Humans
- Leber Congenital Amaurosis -- genetics
- Male
- Microtubule-Associated Proteins
- Nicotinamide-Nucleotide Adenylyltransferase -- genetics
- Pedigree
- Retinal Dystrophies -- genetics
- Retinitis Pigmentosa -- genetics
- Spain
- Usher Syndromes -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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