Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa

Molecular Vision

Volumn 18, Issue , 2012, Pages 2398-2410

  Kim, Cinoo ^a   Kim, Kwang Joong ^b   Bok, Jeong ^b   Lee, Eun Ju ^b   Kim, Dong Joon ^b   Oh, Ji Hee ^b   Park, Sung Pyo ^c   Shin, Joo Young ^a   Lee, Jong Young ^b   Yu, Hyeong Gon ^a  

^a Seoul National University College of Medicine   (South Korea)

^b Korea National Institute of Health   (South Korea)

^c Hallym University   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARAGINE; ASPARTIC ACID; DNA; GLYCINE; HISTIDINE; METHIONINE; THREONINE; TRYPTOPHAN; TYROSINE;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; ELECTRORETINOGRAPHY; FEMALE; GENE; GENE IDENTIFICATION; GENOTYPE; HETEROZYGOSITY; HIGH THROUGHPUT SCREENING; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPTICAL COHERENCE TOMOGRAPHY; PDE6B GENE; PERIMETRY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PRPF3 GENE; PRPH2 GENE; RELIABILITY; RETINA MACULA CYSTOID EDEMA; RETINA MACULA DEGENERATION; RETINA PIGMENT DEGENERATION; RETINITIS PIGMENTOSA; RHO GENE; RP1 GENE; SCHOOL CHILD; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTH KOREA; SUBCAPSULAR CATARACT; VISUAL ACUITY; VISUAL FIELD DEFECT; VISUAL IMPAIRMENT;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CYCLIC NUCLEOTIDE PHOSPHODIESTERASES, TYPE 6; EYE PROTEINS; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; PERIPHERINS; RETINITIS PIGMENTOSA; RHODOPSIN; RIBONUCLEOPROTEIN, U4-U6 SMALL NUCLEAR; SEQUENCE ANALYSIS, DNA; SEVERITY OF ILLNESS INDEX; VISUAL ACUITY;

EID: 84867466389     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (40)

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