The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. [electronic resource]
Producer: 20000405Description: 1024-35 p. digitalISSN:- 0002-9297
- ATP-Binding Cassette Transporters -- chemistry
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- Corneal Dystrophies, Hereditary -- epidemiology
- DNA Mutational Analysis
- Europe -- epidemiology
- Exons -- genetics
- Founder Effect
- Gene Frequency
- Genetic Predisposition to Disease -- genetics
- Genotype
- Humans
- Incidence
- Linkage Disequilibrium -- genetics
- Phenotype
- Point Mutation -- genetics
- Polymorphism, Genetic -- genetics
- RNA, Messenger -- analysis
- Retinitis Pigmentosa -- epidemiology
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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