Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants. [electronic resource]
- Human mutation Nov 2014
- 1354-62 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.22679 doi
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