Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration. [electronic resource]
Producer: 20130108Description: 1301-8 p. digitalISSN:- 1538-3601
- 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
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Publication Type: Journal Article; Research Support, N.I.H., Extramural
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