Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. [electronic resource]
Producer: 20180115Description: 610-25 p. digitalISSN:- 1090-0535
- Base Sequence
- Consanguinity
- DNA Mutational Analysis
- Electroretinography
- Exons
- Eye Proteins -- genetics
- Female
- Genetic Linkage
- Genome-Wide Association Study
- Humans
- Lod Score
- Loss of Function Mutation
- Male
- Microtubule-Associated Proteins
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Retinitis Pigmentosa -- diagnosis
- Young Adult
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Publication Type: Journal Article
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