The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene

Graefe's Archive for Clinical and Experimental Ophthalmology

Volumn 243, Issue 2, 2005, Pages 90-100

  Klevering, B Jeroen ^a   Deutman, August F ^a   Maugeri, Alessandra ^a   Cremers, Frans P M ^a   Hoyng, Carel B ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A4; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE SEVERITY; ELECTRORETINOGRAPHY; EYE FUNDUS FLAVIMACULATUS; FEMALE; FLUORESCENCE ANGIOGRAPHY; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LASER COAGULATION; MALE; MUTATIONAL ANALYSIS; NIGHT BLINDNESS; ONSET AGE; PERIMETRY; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA MACULA AGE RELATED DEGENERATION; RETINA MACULA DEGENERATION; RETINITIS PIGMENTOSA; SCHOOL CHILD; SPECTRUM; STARGARDT DISEASE; VISUAL ACUITY;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; ATP-BINDING CASSETTE TRANSPORTERS; CHILD; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; PERIMETRY; PHENOTYPE; PHOTORECEPTORS, VERTEBRATE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINAL DEGENERATION; VISUAL ACUITY;

EID: 14944354898     PISSN: 0721832X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00417-004-1079-4     Document Type: Article

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