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Volumn 12, Issue , 2006, Pages 177-183

Novel variants in the hotspot region of RP1 in South African patients with retinitis pigmentosa

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GENE PRODUCT; PROTEIN RP1; UNCLASSIFIED DRUG;

EID: 33644982462     PISSN: 10900535     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (9)

References (18)
  • 1
    • 0042285484 scopus 로고    scopus 로고
    • Retinitis pigmentosa: Genes, proteins and prospects
    • Hims MM, Diager SP, Inglehearn CF. Retinitis pigmentosa: genes, proteins and prospects. Dev Ophthalmol 2003; 37:109-25.
    • (2003) Dev Ophthalmol , vol.37 , pp. 109-125
    • Hims, M.M.1    Diager, S.P.2    Inglehearn, C.F.3
  • 2
    • 0034622122 scopus 로고    scopus 로고
    • A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes
    • Phelan JK, Bok D. A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes. Mol Vis 2000; 6:116-24.
    • (2000) Mol Vis , vol.6 , pp. 116-124
    • Phelan, J.K.1    Bok, D.2
  • 6
    • 0017740803 scopus 로고
    • Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): Evidence of an RP locus on chromosome 1
    • Erratum in: Am J Hum Genet 1977; 29:592
    • Spence MA, Sparkes RS, Heckenlively JR, Pearlman JT, Zedalis D, Sparkes M, Crist M, Tideman S. Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): evidence of an RP locus on chromosome 1. Am J Hum Genet 1977; 29:397-404. Erratum in: Am J Hum Genet 1977; 29:592.
    • (1977) Am J Hum Genet , vol.29 , pp. 397-404
    • Spence, M.A.1    Sparkes, R.S.2    Heckenlively, J.R.3    Pearlman, J.T.4    Zedalis, D.5    Sparkes, M.6    Crist, M.7    Tideman, S.8
  • 8
    • 0033031796 scopus 로고    scopus 로고
    • Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa
    • Pierce EA, Quinn T, Meehan T, McGee TL, Berson EL, Dryja TP. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet 1999; 22:248-54.
    • (1999) Nat Genet , vol.22 , pp. 248-254
    • Pierce, E.A.1    Quinn, T.2    Meehan, T.3    McGee, T.L.4    Berson, E.L.5    Dryja, T.P.6
  • 14
    • 0346902126 scopus 로고    scopus 로고
    • Retinal degenerative disorders in Southern Africa: A molecular genetic approach
    • LaVail MM, Hollyfield JG, Anderson RE, editors. Retinal degenerations: mechanisms and experimental therapy. 2002 Sep 30-Oct 5; Burgenstock, Switzerland. New York: Kluwer Academic/Plenum Publishers
    • Ramesar R, Roberts L, Rebello G, Goliath R, Vorster A, September A, Ehrenreich L, Gama D, Greenberg J. Retinal degenerative disorders in Southern Africa: a molecular genetic approach. In: LaVail MM, Hollyfield JG, Anderson RE, editors. Retinal degenerations: mechanisms and experimental therapy. Proceedings of the 10th International Symposium on Retinal Degenerations; 2002 Sep 30-Oct 5; Burgenstock, Switzerland. New York: Kluwer Academic/Plenum Publishers; 2003. p.35-40.
    • (2003) Proceedings of the 10th International Symposium on Retinal Degenerations , pp. 35-40
    • Ramesar, R.1    Roberts, L.2    Rebello, G.3    Goliath, R.4    Vorster, A.5    September, A.6    Ehrenreich, L.7    Gama, D.8    Greenberg, J.9
  • 15
    • 0033910921 scopus 로고    scopus 로고
    • Low frequency of rhodopsin mutations in South African patients with autosomal dominant retinitis pigmentosa
    • Roberts L, Ramesar R, Greenberg J. Low frequency of rhodopsin mutations in South African patients with autosomal dominant retinitis pigmentosa. Clin Genet 2000; 58:77-8.
    • (2000) Clin Genet , vol.58 , pp. 77-78
    • Roberts, L.1    Ramesar, R.2    Greenberg, J.3
  • 16
    • 0031744522 scopus 로고    scopus 로고
    • Proof of "disease causing" mutation
    • Cotton RG, Scriver CR. Proof of "disease causing" mutation. Hum Mutat 1998; 12:1-3.
    • (1998) Hum Mutat , vol.12 , pp. 1-3
    • Cotton, R.G.1    Scriver, C.R.2
  • 17
    • 33644972780 scopus 로고    scopus 로고
    • Unusual frequencies of Rhodopsin mutations and polymorphisms in Southern African patients with retinitis pigmentosa
    • Anderson RE, LaVail MM, Hollyfield JG, editors. New insights into retinal degenerative diseases. 2000 Oct 9-14; Durango, CO. New York: Kluwer Academic/Plenum Publishers
    • Greenberg J, Roberts L, Ramesar R. Unusual frequencies of Rhodopsin mutations and polymorphisms in Southern African patients with retinitis pigmentosa. In: Anderson RE, LaVail MM, Hollyfield JG, editors. New insights into retinal degenerative diseases. Proceedings of the 9th International Symposium on Retinal Degeneration; 2000 Oct 9-14; Durango, CO. New York: Kluwer Academic/Plenum Publishers; 2001. p.329-33.
    • (2001) Proceedings of the 9th International Symposium on Retinal Degeneration , pp. 329-333
    • Greenberg, J.1    Roberts, L.2    Ramesar, R.3
  • 18
    • 0034999807 scopus 로고    scopus 로고
    • Denaturing high-performance liquid chromatography: A review
    • Xiao W, Oefner PJ. Denaturing high-performance liquid chromatography: A review. Hum Mutat 2001; 17:439-74.
    • (2001) Hum Mutat , vol.17 , pp. 439-474
    • Xiao, W.1    Oefner, P.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.