Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration

Investigative Ophthalmology and Visual Science

Volumn 41, Issue 13, 2000, Pages 4293-4299

  Thompson, D A ^a   Gyurus, P ^a   Fleischer, L L ^a   Bingham, E L ^a   McHenry, C L ^a   Apfelstedt Sylla, E ^a   Zrenner, E ^a   Lorenz, B ^a   Richards, J E ^a   Jacobson, S G ^a   Sieving, P A ^a   Gal, A ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 1; DISEASE ASSOCIATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PIGMENT EPITHELIUM; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA MALFORMATION; SINGLE STRAND CONFORMATION POLYMORPHISM; UNIPARENTAL DISOMY;

ADOLESCENT; ADULT; AGE OF ONSET; CARRIER PROTEINS; CHILD; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE PROTEINS; HAPLOTYPES; HUMANS; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE; PIGMENT EPITHELIUM OF EYE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PREVALENCE; PROTEINS; RETINA; RETINAL DEGENERATION; SEQUENCE ANALYSIS, DNA; VISUAL ACUITY;

EID: 0033653161     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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