Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa

Archives of Ophthalmology

Volumn 127, Issue 6, 2009, Pages 784-790

  Lim, King Poo ^a   Yip, Shea Ping ^a,b   Cheung, Suk Chun ^a   Leung, Kam Wah ^b   Lam, Stephen T S ^b,c   To, Chi Ho ^a,b,d  

^a HONG KONG POLYTECHNIC UNIVERSITY   (Hong Kong)

^b Retina Hong Kong   (Hong Kong)

^c DEPARTMENT OF HEALTH   (Hong Kong)

^d SUN YAT SEN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

PERIPHERIN; PERIPHERIN 2; PREMESSENGER RNA PROCESSING FACTOR 31; RHODOPSIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHINESE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGE OF ONSET; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINITIS PIGMENTOSA; RHODOPSIN; SEQUENCE ANALYSIS, DNA; VISUAL ACUITY; YOUNG ADULT;

EID: 66949160383     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2009.112     Document Type: Article

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