Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations

Investigative Ophthalmology and Visual Science

Volumn 46, Issue 10, 2005, Pages 3812-3816

  Lee, Kelvin Y C ^a,b   Koh, Adrian H C ^a   Aung, Tin ^a,b,c   Yong, Victor H K ^b   Yeung, Kit ^b,c   Ang, Chong Lye ^a,b   Vithana, Eranga N ^b  

^a SINGAPORE NATIONAL EYE CENTRE   (Singapore)

^b SINGAPORE EYE RESEARCH INSTITUTE   (Singapore)

^c NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; BIETTI CRYSTALLINE DYSTROPHY; CLINICAL ARTICLE; FEMALE; GENE AMPLIFICATION; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL; RETINA DYSTROPHY; SINGAPORE; ELECTRORETINOGRAPHY; EXON; FLUORESCENCE ANGIOGRAPHY; FOUNDER EFFECT; GENE DELETION; GENETICS; HAPLOTYPE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RECESSIVE GENE; RETINA DEGENERATION; VISUAL FIELD;

CYP4V2 PROTEIN, HUMAN; CYTOCHROME P450;

ADULT; AGED; BASE SEQUENCE; CYTOCHROME P-450 ENZYME SYSTEM; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EXONS; FEMALE; FLUORESCEIN ANGIOGRAPHY; FOUNDER EFFECT; GENES, RECESSIVE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RETINAL DEGENERATION; SEQUENCE DELETION; SINGAPORE; VISUAL FIELDS;

EID: 32944468810     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.05-0378     Document Type: Article

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