Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy

Molecular Medicine Reports

Volumn 7, Issue 6, 2013, Pages 1779-1785

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

^a SUN YAT SEN UNIVERSITY   (China)

Author keywords

Chinese; Cone rod dystrophy; GUCY2D; Mutation; Mutation frequency; PRPH 2; UNC119

Indexed keywords

ARTICLE; CHINESE; COHORT ANALYSIS; CONTROLLED STUDY; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MUTATION RATE; NUCLEOTIDE SEQUENCE; RETINA CONE ROD DYSTROPHY; RETINA DYSTROPHY;

COMPUTATIONAL BIOLOGY; EXONS; GENE FREQUENCY; GUANYLATE CYCLASE; HETEROZYGOTE; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MEMBRANE GLYCOPROTEINS; MUTATION; NERVE TISSUE PROTEINS; OPEN READING FRAMES; PEDIGREE; POTASSIUM CHANNELS, VOLTAGE-GATED; RECEPTORS, CELL SURFACE; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS, DNA;

EID: 84877292980     PISSN: 17912997     EISSN: 17913004     Source Type: Journal    
DOI: 10.3892/mmr.2013.1415     Document Type: Article

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