RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression

Investigative Ophthalmology and Visual Science

Volumn 48, Issue 1, 2007, Pages 332-338

  Jacobson, Samuel G ^a   Cideciyan, Artur V ^a   Aleman, Tomas S ^a   Sumaroka, Alexander ^a   Schwartz, Sharon B ^a   Windsor, Elizabeth A M ^a   Roman, Alejandro J ^a   Heon, Elise ^b   Stone, Edwin M ^c   Thompson, Debra A ^d  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^d UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLINDNESS; CASE REPORT; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; GENE; GENE DISRUPTION; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; HUMAN TISSUE; IN VITRO STUDY; LEBER CONGENITAL AMAUROSIS; MUTANT; OPTICAL COHERENCE TOMOGRAPHY; PATHOGENESIS; PRIORITY JOURNAL; RDH12 GENE; RETINA DEGENERATION; RPE65 GENE; VISION; DARK ADAPTATION; GENETICS; MIDDLE AGED; MUTATION; PATHOLOGY; PHOTOTRANSDUCTION; PSYCHOPHYSICS; RETINA;

ALCOHOL DEHYDROGENASE; CARRIER PROTEIN; CRB1 PROTEIN, HUMAN; EYE PROTEIN; MEMBRANE PROTEIN; NERVE PROTEIN; RDH12 PROTEIN, HUMAN; RPE65 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALCOHOL OXIDOREDUCTASES; BLINDNESS; CARRIER PROTEINS; CHILD; DARK ADAPTATION; EYE PROTEINS; HUMANS; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; PHOTOTRANSDUCTION; PSYCHOPHYSICS; RETINA; RETINAL DEGENERATION; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 33846923884     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.06-0599     Document Type: Article

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