Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene

Archives of Ophthalmology

Volumn 130, Issue 8, 2012, Pages 1038-1047

  Van De Ven, Johannes P H ^a   Boon, Camiel J F ^a   Fauser, Sacha ^b   Hoefsloot, Lies H ^a   Smailhodzic, Dzenita ^a   Schoenmaker Koller, Frederieke ^a   Klevering, B Jeroen ^a   Klaver, Caroline C W ^c   Den Hollander, Anneke I ^a   Hoyng, Carel B ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF COLOGNE   (Germany)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR H; GENOMIC DNA;

ADULT; AGED; ARTICLE; BASAL LAMINAR DRUSEN; BLOOD ANALYSIS; CLINICAL ARTICLE; CREATININE BLOOD LEVEL; DRUSEN; EXON; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENE MUTATION; HETEROZYGOTE; HUMAN; KIDNEY FAILURE; KIDNEY FUNCTION TEST; MALE; MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; UREA NITROGEN BLOOD LEVEL;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; COMPLEMENT FACTOR H; DNA MUTATIONAL ANALYSIS; FEMALE; FLUORESCEIN ANGIOGRAPHY; GLOMERULONEPHRITIS, MEMBRANOPROLIFERATIVE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; RETINAL DRUSEN; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; YOUNG ADULT;

EID: 84865593375     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2012.265     Document Type: Article

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