A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family. [electronic resource]
Producer: 20080609Description: 675-82 p. digitalISSN:- 1090-0535
- Adult
- Age of Onset
- Aged
- Arabs -- genetics
- Base Sequence
- Consanguinity
- DNA Mutational Analysis
- Exons -- genetics
- Eye Proteins -- genetics
- Family
- Female
- Fundus Oculi
- Haplotypes
- Humans
- Introns -- genetics
- Islam
- Israel -- epidemiology
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation -- genetics
- Pedigree
- RNA Splice Sites -- genetics
- Retinitis Pigmentosa -- epidemiology
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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