Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration.
Duncan, Jacque L
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
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