Identification of CNGA3 mutations in 46 families: Common cause of achromatopsia and cone-rod dystrophies in Chinese patients

JAMA Ophthalmology

Volumn 132, Issue 9, 2014, Pages 1076-1083

  Li, Shiqiang ^a   Huang, Li ^a   Xiao, Xueshan ^a   Jia, Xiaoyun ^a   Guo, Xiangming ^a   Zhang, Qingjiong ^a  

^a SUN YAT SEN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; CNGA3 PROTEIN, HUMAN; CYCLIC NUCLEOTIDE GATED CHANNEL;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHINESE; CNGA3 GENE; COLOR BLINDNESS; CONE ROD DYSTROPHY; ELECTRORETINOGRAPHY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; RETINA DYSTROPHY; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; COLOR VISION DEFECTS; EPIDEMIOLOGY; EXON; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; RETINITIS PIGMENTOSA;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CHINA; COLOR VISION DEFECTS; CYCLIC NUCLEOTIDE-GATED CATION CHANNELS; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EXONS; FEMALE; HUMANS; INFANT; LEBER CONGENITAL AMAUROSIS; MALE; MUTATION; PEDIGREE; PHENOTYPE; RETINITIS PIGMENTOSA;

EID: 84907541076     PISSN: 21686165     EISSN: 21686173     Source Type: Journal    
DOI: 10.1001/jamaophthalmol.2014.1032     Document Type: Article

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