Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration

Archives of Ophthalmology

Volumn 130, Issue 10, 2012, Pages 1301-1308

  Duncan, Jacque L ^a   Roorda, Austin ^b   Navani, Mili ^c   Vishweswaraiah, Sangeetha ^c   Syed, Reema ^a   Soudry, Shiri ^a   Ratnam, Kavitha ^a   Gudiseva, Harini V ^c   Lee, Pauline ^e   Gaasterland, Terry ^d   Ayyagari, Radha ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CADHERIN; CADHERIN RELATED FAMILY MEMBER 1; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE RETINAL DEGENERATION; ELECTRORETINOGRAPHY; FEMALE; FUNDUS CAMERA; GENE; GENE IDENTIFICATION; GENE MUTATION; HUMAN; MALE; NIGHT BLINDNESS; NONSENSE MUTATION; OPTICAL COHERENCE TOMOGRAPHY; OPTICS; PERIMETRY; PHENOTYPE; PRIORITY JOURNAL; RETINA CONE; RETINA DEGENERATION; SCANNING LASER OPHTHALMOSCOPY; VISUAL ACUITY; VISUAL FIELD;

ADULT; AGED; CADHERINS; CODON, NONSENSE; COLOR VISION; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EXOME; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; OPHTHALMOSCOPY; PEDIGREE; PHENOTYPE; PHOTORECEPTOR CELLS, VERTEBRATE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; REFRACTION, OCULAR; RETINAL DEGENERATION; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELDS; YOUNG ADULT;

EID: 84867340223     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2012.1906     Document Type: Article

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