TY  - GEN
AU  - Duncan,Jacque L
AU  - Roorda,Austin
AU  - Navani,Mili
AU  - Vishweswaraiah,Sangeetha
AU  - Syed,Reema
AU  - Soudry,Shiri
AU  - Ratnam,Kavitha
AU  - Gudiseva,Harini V
AU  - Lee,Pauline
AU  - Gaasterland,Terry
AU  - Ayyagari,Radha
TI  - Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration
SN  - 1538-3601
PY  - 2013///0108
KW  - Adult
KW  - Aged
KW  - Cadherin Related Proteins
KW  - Cadherins
KW  - genetics
KW  - Codon, Nonsense
KW  - Color Vision
KW  - physiology
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Electroretinography
KW  - Exome
KW  - Female
KW  - Genes, Recessive
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Nerve Tissue Proteins
KW  - Ophthalmoscopy
KW  - Pedigree
KW  - Phenotype
KW  - Photoreceptor Cells, Vertebrate
KW  - pathology
KW  - Polymerase Chain Reaction
KW  - Polymorphism, Single Nucleotide
KW  - Refraction, Ocular
KW  - Retinal Degeneration
KW  - Tomography, Optical Coherence
KW  - Visual Acuity
KW  - Visual Fields
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural
UR  - https://doi.org/10.1001/archophthalmol.2012.1906
ER  -