Gardner, Jessica C

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