A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy

Molecular Vision

Volumn 19, Issue , 2013, Pages 1039-1046

  Zhao, Xin ^a   Ren, YanFan ^a   Zhang, Xiaohui ^a   Chen, Changxi ^a   Dong, Bing ^a   Li, Yang ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; BIOLOGICAL MARKER; COMPLEMENTARY DNA; EYE PROTEIN; GENOMIC DNA; GLYCINE; GUANYLATE CYCLASE 2D PROTEIN; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ARYLHYDROCARBON RECEPTOR INTERACTING PROTEIN LIKE 1 GENE; AUTOSOMAL DISORDER; AUTOSOMAL DOMINANT CONE DYSTROPHY; AUTOSOMAL DOMINANT CONE ROD DYSTROPHY; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHINESE; CHROMOSOME 17P; CHROMOSOME MAP; CONTROLLED STUDY; DNA EXTRACTION; EXON; FAMILY ASSESSMENT; GENE LOCATION; GENE LOCUS; GENE SEQUENCE; GENETIC CODE; GENOTYPING TECHNIQUE; GUANYLATE CYCLASE 2D GENE; HAPLOTYPE; HUMAN; LINKAGE ANALYSIS; MALE; MARKER GENE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PITPNM3 GENE; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; VISUAL ACUITY;

ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHINA; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FAMILY; FEMALE; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; GUANYLATE CYCLASE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RECEPTORS, CELL SURFACE; RETINITIS PIGMENTOSA; TOMOGRAPHY, OPTICAL COHERENCE; YOUNG ADULT;

EID: 84878189443     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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