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Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.
- Source :
-
Ophthalmology [Ophthalmology] 2016 Mar; Vol. 123 (3), pp. 668-71.e2. Date of Electronic Publication: 2015 Nov 07. - Publication Year :
- 2016
- Subjects :
- Adult
Color Vision Defects genetics
DNA Mutational Analysis
Electroretinography
Female
Genome-Wide Association Study
Genotyping Techniques
Humans
Optical Imaging
Pedigree
Retinal Cone Photoreceptor Cells pathology
Retinal Dystrophies diagnosis
Retinal Dystrophies physiopathology
Tomography, Optical Coherence
Young Adult
Calcium Channels, L-Type genetics
Codon, Nonsense
Retinal Dystrophies genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1549-4713
- Volume :
- 123
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Ophthalmology
- Publication Type :
- Academic Journal
- Accession number :
- 26560832
- Full Text :
- https://doi.org/10.1016/j.ophtha.2015.09.045