Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa

Investigative Ophthalmology and Visual Science

Volumn 51, Issue 4, 2010, Pages 2236-2242

  Chen, Li Jia ^a   Lai, Timothy Y Y ^a   Tam, Pancy O S ^a   Chiang, Sylvia W Y ^a   Zhang, Xin ^a   Lam, Shi ^a   Lai, Ricky Y K ^a   Lam, Dennis S C ^a   Pang, Chi Pui ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA; CFG GENE; CHILD; CHINESE; CONTROLLED STUDY; EXON; EXUDATIVE MACULAR DEGENERATION; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC SCREENING; GENOTYPE; HETEROZYGOSITY; HTRA1 GENE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; NONSENSE MUTATION; NR2E3 GENE; NRL GENE; PATHOGENESIS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; RETINITIS PIGMENTOSA; RHO GENE; RP1 GENE; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; GENETICS; HETEROZYGOTE; MIDDLE AGED; RECESSIVE GENE; RETINA MACULA DEGENERATION;

BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR; EYE PROTEIN; NR2E3 PROTEIN, HUMAN; NRL PROTEIN, HUMAN; ORPHAN NUCLEAR RECEPTOR; RHODOPSIN; RP1 PROTEIN, HUMAN;

ADOLESCENT; AGED; AGED, 80 AND OVER; BASIC-LEUCINE ZIPPER TRANSCRIPTION FACTORS; CHILD; EYE PROTEINS; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; GENOTYPE; HETEROZYGOTE; HUMANS; MACULAR DEGENERATION; MALE; MIDDLE AGED; ORPHAN NUCLEAR RECEPTORS; PEDIGREE; PHENOTYPE; RETINITIS PIGMENTOSA; RHODOPSIN; YOUNG ADULT;

EID: 77951212812     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.09-4437     Document Type: Article

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