Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration. [electronic resource]
- Archives of ophthalmology (Chicago, Ill. : 1960) Oct 2012
- 1301-8 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural
1538-3601
10.1001/archophthalmol.2012.1906 doi
Adult Aged Cadherin Related Proteins Cadherins--genetics Codon, Nonsense Color Vision--physiology Consanguinity DNA Mutational Analysis Electroretinography Exome--genetics Female Genes, Recessive--genetics Humans Male Middle Aged Nerve Tissue Proteins--genetics Ophthalmoscopy Pedigree Phenotype Photoreceptor Cells, Vertebrate--pathology Polymerase Chain Reaction Polymorphism, Single Nucleotide--genetics Refraction, Ocular--physiology Retinal Degeneration--genetics Tomography, Optical Coherence Visual Acuity--physiology Visual Fields--physiology Young Adult