CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis

Investigative Ophthalmology and Visual Science

Volumn 50, Issue 7, 2009, Pages 3185-3187

  McMahon, Timothy T ^a   Kim, Linda S ^a   Fishman, Gerald A ^a   Stone, Edwin M ^b   Zhao, Xinping C ^c   Yee, Richard W ^c   Malicki, Jarema ^d  

^a UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c UNIVERSITY OF TEXAS   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CRB1 GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; KERATOCONUS; KERATOMETRY; LEBER CONGENITAL AMAUROSIS; MALE; MARKER GENE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SLIT LAMP; VISUAL ACUITY; BLINDNESS; ELECTRORETINOGRAPHY; FEMALE; GENETICS; MIDDLE AGED; MUTATION; PEDIGREE; PHYSIOLOGY; RETINA DEGENERATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

AIPL1 PROTEIN, HUMAN; CARRIER PROTEIN; CELL SURFACE RECEPTOR; CONE ROD HOMEOBOX PROTEIN; CRB1 PROTEIN, HUMAN; EYE PROTEIN; GUANYLATE CYCLASE; GUANYLATE CYCLASE 1; HOMEODOMAIN PROTEIN; MEMBRANE PROTEIN; NERVE PROTEIN; RPE65 PROTEIN, HUMAN; TRANSACTIVATOR PROTEIN;

ADOLESCENT; ADULT; AGED; BLINDNESS; CARRIER PROTEINS; CORNEAL TOPOGRAPHY; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; GENOTYPE; GUANYLATE CYCLASE; HOMEODOMAIN PROTEINS; HUMANS; KERATOCONUS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; RECEPTORS, CELL SURFACE; RETINAL DEGENERATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANS-ACTIVATORS; VISUAL ACUITY; YOUNG ADULT;

EID: 67649989556     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.08-2886     Document Type: Article

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