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Volumn 23, Issue 4, 2003, Pages 543-546

Albipunctate retinopathy with cone dysfunction and no abnormality in the RDH5 or RLBP1 genes

Author keywords

[No Author keywords available]

Indexed keywords

11 CIS RETINAL; 11 CIS RETINOL DEHYDROGENASE; GENE PRODUCT; GENOMIC DNA; RETINOID BINDING PROTEIN; RETINOL DEHYDROGENASE; UNCLASSIFIED DRUG;

EID: 0042838114     PISSN: 0275004X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00006982-200308000-00018     Document Type: Article
Times cited : (3)

References (8)
  • 1
    • 0017407604 scopus 로고
    • Fundus albipunctatus: A clinical study of the fundus lesions, the physiologic deficit, and the vitamin A metabolism
    • Marmor MF. Fundus albipunctatus: a clinical study of the fundus lesions, the physiologic deficit, and the vitamin A metabolism. Doc Ophthalmol 1977;43:277-302.
    • (1977) Doc Ophthalmol , vol.43 , pp. 277-302
    • Marmor, M.F.1
  • 3
    • 0023252398 scopus 로고
    • Variable expressivity in fundus albipunctatus
    • Margolis S, Siegel IM, Ripps H. Variable expressivity in fundus albipunctatus. Ophthalmology 1987;94:1416-1422.
    • (1987) Ophthalmology , vol.94 , pp. 1416-1422
    • Margolis, S.1    Siegel, I.M.2    Ripps, H.3
  • 4
    • 0033765274 scopus 로고    scopus 로고
    • A high association with cone dystrophy in fundus albipunctatus caused by mutations of the RDH5 gene
    • Nakamura M, Hotta Y, Tanikawa A, Terasaki H, Miyake Y. A high association with cone dystrophy in fundus albipunctatus caused by mutations of the RDH5 gene. Invest Ophthalmol Vis Sci 2000;41:3925-3932.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 3925-3932
    • Nakamura, M.1    Hotta, Y.2    Tanikawa, A.3    Terasaki, H.4    Miyake, Y.5
  • 5
    • 0033033364 scopus 로고    scopus 로고
    • Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus
    • Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat Genet 1999;22:188-191.
    • (1999) Nat Genet , vol.22 , pp. 188-191
    • Yamamoto, H.1    Simon, A.2    Eriksson, U.3    Harris, E.4    Berson, E.L.5    Dryja, T.P.6
  • 6
    • 0034502813 scopus 로고    scopus 로고
    • Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man
    • Cideciyan AV, Haeseleer F, Fariss RN, et al. Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man. Vis Neurosci 2000;17:667-678.
    • (2000) Vis Neurosci , vol.17 , pp. 667-678
    • Cideciyan, A.V.1    Haeseleer, F.2    Fariss, R.N.3
  • 7
    • 0034955572 scopus 로고    scopus 로고
    • Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1
    • Katsanis N, Shroyer NF, Lewis RA, et al. Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. Clin Genet 2001;59:424-429.
    • (2001) Clin Genet , vol.59 , pp. 424-429
    • Katsanis, N.1    Shroyer, N.F.2    Lewis, R.A.3
  • 8
    • 0033066801 scopus 로고    scopus 로고
    • Recessive mutations in the RLBPI gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens
    • Morimura H, Berson EL, Dryja TP. Recessive mutations in the RLBPI gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. Invest Ophthalmol Vis Sci 1999;40:1000-1004.
    • (1999) Invest Ophthalmol Vis Sci , vol.40 , pp. 1000-1004
    • Morimura, H.1    Berson, E.L.2    Dryja, T.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.