Phenotypic expression of a PRPF8 gene mutation in a large African American family

Archives of Ophthalmology

Volumn 126, Issue 8, 2008, Pages 1127-1132

  Walia, Saloni ^a   Fishman, Gerald A ^a,e   Zernant Rajang, Jana ^b   Raime, Kairi ^d   Allikmets, Rando ^b,c  

^a UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^b Och Spine at New York Presbyterian Hospitals   (United States)

^c Department of Medicine   (United States)

^d Asper Biotech Ltd   (Estonia)

^e UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AFRICAN AMERICAN; ARTICLE; CLINICAL ARTICLE; ELECTRORETINOGRAPHY; EYE EXAMINATION; FEMALE; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MALE; MICROARRAY ANALYSIS; NIGHT BLINDNESS; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; OPTICAL COHERENCE TOMOGRAPHY; PERIMETRY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA MACULA HOLE; RETINA MACULA LUTEA; RETINITIS PIGMENTOSA; SCHOOL CHILD; SYMPTOMATOLOGY; VISUAL ACUITY; VISUAL FIELD; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; AFRICAN AMERICANS; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; ELECTRORETINOGRAPHY; FEMALE; GENES, DOMINANT; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PERIMETRY; PHENOTYPE; RETINITIS PIGMENTOSA; TOMOGRAPHY, OPTICAL COHERENCE; VISION DISORDERS; VISUAL ACUITY; VISUAL FIELDS;

EID: 49449109851     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.126.8.1127     Document Type: Article

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