Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15

American Journal of Ophthalmology

Volumn 139, Issue 2, 2005, Pages 386-388

  Demirci, F Yesim K ^a   Gupta, Nisha ^b   Radak, Amy L ^c   Rigatti, Brian W ^a   Mah, Tammy S ^a   Milam, Ann H ^b   Gorin, Michael B ^a,c,d  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^d UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

REGULATOR PROTEIN; RETINITIS PIGMENTOSA GTPASE REGULATOR PROTEIN; UNCLASSIFIED DRUG; VISUAL PIGMENT;

AGED; ARTICLE; CADAVER; CASE REPORT; DONOR; EXON; EYE; GENE DELETION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; MALE; MICROSCOPY; PATIENT; PHOTORECEPTOR; PIGMENT EPITHELIUM; PRIORITY JOURNAL; REGULATOR GENE; RETINA; RETINA CONE; RETINA CONE ROD DYSTROPHY; RETINA DYSTROPHY; RETINA EDEMA; RETINA FOVEA; RETINA MACULA DEGENERATION; RETINA MACULA LUTEA; RETINA ROD; X CHROMOSOME LINKED DISORDER;

EID: 14244268699     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2004.08.041     Document Type: Article

References (6)

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2. R. Vervoort, A.F. Wright Mutations of RPGR in X-linked retinitis pigmentosa (RP3) Hum Mutat 19 2002 486 500
3. R. Ayyagari, F.Y. Demirci, J. Liu X-linked recessive atrophic macular degeneration from RPGR mutation Genomics 80 2002 166 171
4. G.D. Aguirre, B.M. Yashar, S.K. John Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15 Exp Eye Res 75 2002 431 443
5. D. Sharon, M.A. Sandberg, V.W. Rabe, M. Stillberger, T.P. Dryja, E.L. Berson RP2 and RPGR mutations and clinical correlations in patients with x-linked retinitis pigmentosa Am J Hum Genet 73 2003 1131 1146
6. G. Rebello, A. Vorster, J. Greenberg Analysis of RPGR in a South African family with X-linked retinitis pigmentosa research and diagnostic implications Clin Genet 64 2003 137 141