Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient

Archives of Ophthalmology

Volumn 129, Issue 9, 2011, Pages 1212-1217

  Lam, Kevin ^a   Guo, Haiyan ^a   Wilson, Graham A ^b   Kohl, Susanne ^c   Wong, Fulton ^d  

^a AITBiotech Pte Ltd   (Singapore)

^b UNIVERSITY OF OTAGO   (New Zealand)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; BIOINFORMATICS; CHILD; CLINICAL EVALUATION; COLOR BLINDNESS; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DISEASE ASSOCIATION; DNA SEQUENCE; ELECTRORETINOGRAM; EXOME; EXOME SEQUENCING; FEMALE; GENE; GENE MUTATION; GENETIC DAMAGE; GENETIC IDENTIFICATION; GENETIC MODEL; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; INFANT; MOLECULAR DIAGNOSIS; NYSTAGMUS; PHENOTYPE; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; SCHOOL CHILD; SEGREGATION ANALYSIS; VISUAL ACUITY;

BASE SEQUENCE; COLOR VISION DEFECTS; COMPUTATIONAL BIOLOGY; CYCLIC NUCLEOTIDE-GATED CATION CHANNELS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE LIBRARY; GENETIC VARIATION; GENOME; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 80052790048     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2011.254     Document Type: Article

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