Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy. [electronic resource]
Producer: 20200410Description: 147-157 p. digitalISSN:- 1573-2622
- ATP-Binding Cassette Transporters -- genetics
- Adolescent
- Adult
- Aged
- Child
- Child, Preschool
- Cone-Rod Dystrophies -- genetics
- Electroretinography
- Eye Diseases, Hereditary -- genetics
- Female
- Genetic Diseases, X-Linked -- genetics
- Humans
- Male
- Middle Aged
- Myopia -- genetics
- Night Blindness -- genetics
- Pedigree
- Phenotype
- Photic Stimulation
- Polymorphism, Single Nucleotide
- Retina -- physiology
- Retinal Cone Photoreceptor Cells -- physiology
- Tomography, Optical Coherence
- Transducin -- genetics
- Visual Acuity -- physiology
- Exome Sequencing
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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