Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants. [electronic resource]
Producer: 20150626Description: 1354-62 p. digitalISSN:- 1098-1004
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Amino Acid Substitution
- Child
- Child, Preschool
- Cone Opsins -- genetics
- Gene Order
- Gene Silencing
- Genetic Association Studies
- Genetic Diseases, X-Linked -- diagnosis
- Genotype
- Haplotypes
- Hemizygote
- Humans
- Male
- Middle Aged
- Mutation
- Mutation, Missense
- Ophthalmoscopes
- Pedigree
- Phenotype
- Polymorphism, Single Nucleotide
- RNA Splicing
- Retinitis Pigmentosa -- diagnosis
- Sequence Deletion
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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