A novel mutation at the N-terminal domain of the TIMP3 gene in sorsby fundus dystrophy

Retina

Volumn 33, Issue 2, 2013, Pages 429-435

  Schoenberger, Scott D ^a   Agarwal, Anita ^a  

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

inherited macular dystrophies; macular degeneration; Sorsby fundus dystrophy; TIMP3 gene

Indexed keywords

BEVACIZUMAB; CYSTEINE; GENOMIC DNA; PEGAPTANIB; RANIBIZUMAB; SERINE; TISSUE INHIBITOR OF METALLOPROTEINASE 3; TRIAMCINOLONE ACETONIDE; VASCULOTROPIN INHIBITOR;

ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; BLINDNESS; CASE REPORT; DISEASE COURSE; DNA SEQUENCE; DRUSEN; EXON; EYE DISEASE; EYE FUNDUS; FAMILY HISTORY; FOLLOW UP; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; LASER COAGULATION; MEDICAL RECORD REVIEW; NIGHT BLINDNESS; OPHTHALMOSCOPY; PHOTODYNAMIC THERAPY; PHOTORECEPTOR; PHOTORECEPTOR ATROPHY; PIGMENT EPITHELIUM; POLYMERASE CHAIN REACTION; PROTEIN DOMAIN; RECURRENT DISEASE; RETINA DETACHMENT; RETINA FLUORESCEIN ANGIOGRAPHY; RETINA HEMORRHAGE; RETINA MACULA DEGENERATION; RETROSPECTIVE STUDY; SCAR FORMATION; SCOTOMA; SORSBY FUNDUS DYSTROPHY; SUBRETINAL FLUID; SUBRETINAL NEOVASCULARIZATION; VISUAL ACUITY; VISUAL IMPAIRMENT;

ATROPHY; EXONS; FEMALE; HUMANS; MACULAR DEGENERATION; MIDDLE AGED; MUTATION; PHOTORECEPTOR CELLS, VERTEBRATE; POLYMERASE CHAIN REACTION; RETINAL DRUSEN; RETINAL PIGMENT EPITHELIUM; RETROSPECTIVE STUDIES; TISSUE INHIBITOR OF METALLOPROTEINASE-3; VISUAL ACUITY;

EID: 84873405997     PISSN: 0275004X     EISSN: 15392864     Source Type: Journal    
DOI: 10.1097/IAE.0b013e318263d3b4     Document Type: Article

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