Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. [electronic resource]
Producer: 20100319Description: 240-7 p. digitalISSN:- 1537-6605
- Amino Acid Sequence
- Base Pairing -- genetics
- Base Sequence
- DNA Mutational Analysis
- Family
- Female
- Fundus Oculi
- Genetic Linkage
- Genome-Wide Association Study
- Humans
- Male
- Membrane Proteins -- chemistry
- Molecular Sequence Data
- Mutation -- genetics
- Mutation, Missense -- genetics
- Pedigree
- Polymorphism, Single Nucleotide -- genetics
- Retinal Diseases -- genetics
- Sequence Analysis, DNA -- methods
- Tetraspanins
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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