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Volumn 89, Issue 8, 1999, Pages 877-878

A photoreceptor gene mutation in an indigenous black African family with retinitis pigmentosa identified using a rapid screening approach for common rhodopsin mutations

Author keywords

[No Author keywords available]

Indexed keywords

RHODOPSIN;

EID: 0032726601     PISSN: 02569574     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (7)

References (14)
  • 1
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    • Inherited retinal degeneration: Exceptional genetic and clinical heterogeneity
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  • 3
    • 0024745724 scopus 로고
    • Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3
    • McWilliam P, Farrar J, Kenna P, et al. Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3. Genomics 1989; 5: 619-622.
    • (1989) Genomics , vol.5 , pp. 619-622
    • McWilliam, P.1    Farrar, J.2    Kenna, P.3
  • 4
    • 0025105161 scopus 로고
    • A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
    • Dryja TP, McGee TL, Reichel E, et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 1990; 343: 364-366.
    • (1990) Nature , vol.343 , pp. 364-366
    • Dryja, T.P.1    McGee, T.L.2    Reichel, E.3
  • 5
    • 0025043276 scopus 로고
    • Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa
    • Dryja TP, McGee TL, Reichel E, et al. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med 1990; 323: 1302-1307.
    • (1990) N Engl J Med , vol.323 , pp. 1302-1307
    • Dryja, T.P.1    McGee, T.L.2    Reichel, E.3
  • 7
    • 0026637831 scopus 로고
    • Retinitis pigmentosa, AD Type I. Exclusion of linkage to D3S47 (C17) in a large South African family of British origin
    • Greenberg LJ, Babaya M, Ramesar R, Beighton P. Retinitis pigmentosa, AD Type I. Exclusion of linkage to D3S47 (C17) in a large South African family of British origin. Clin Genet 1992; 41: 322-325.
    • (1992) Clin Genet , vol.41 , pp. 322-325
    • Greenberg, L.J.1    Babaya, M.2    Ramesar, R.3    Beighton, P.4
  • 8
    • 0028363788 scopus 로고
    • A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17
    • Greenberg J, Goliath R, Beighton P, Ramesar R. A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17. Hum Mol Genet 1994; 3: 913-918.
    • (1994) Hum Mol Genet , vol.3 , pp. 913-918
    • Greenberg, J.1    Goliath, R.2    Beighton, P.3    Ramesar, R.4
  • 9
    • 0029132648 scopus 로고
    • Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p
    • Goliath R, Shugardt Y, Janssens P, et al. Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p. Am J Hum Genet 1995; 57: 962-965.
    • (1995) Am J Hum Genet , vol.57 , pp. 962-965
    • Goliath, R.1    Shugardt, Y.2    Janssens, P.3
  • 10
    • 0029143376 scopus 로고
    • An eighth locus for autosomal dominant retinitis pigmentosa is genetically linked to chromosome 17q
    • Bardien S, Ebenezar N, Greenberg J, et al. An eighth locus for autosomal dominant retinitis pigmentosa is genetically linked to chromosome 17q. Hum Mol Genet 1995; 4: 1459-1462.
    • (1995) Hum Mol Genet , vol.4 , pp. 1459-1462
    • Bardien, S.1    Ebenezar, N.2    Greenberg, J.3
  • 11
    • 0031964978 scopus 로고    scopus 로고
    • Rhodopsin mutation Gly109Arg in a family with autosomal dominant retinitis pigmentosa
    • Goliath R, Bardien S, September A, Martin R, Ramesar R, Greenberg J. Rhodopsin mutation Gly109Arg in a family with autosomal dominant retinitis pigmentosa. Hum Mutat 1998; 10: suppl 1, S40-S41.
    • (1998) Hum Mutat , vol.10 , Issue.SUPPL. 1
    • Goliath, R.1    Bardien, S.2    September, A.3    Martin, R.4    Ramesar, R.5    Greenberg, J.6
  • 12
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    • Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect
    • Berson EL, Rosner B, Sandberg MA, Dryja TP. Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect. Arch Ophthalmol 1991; 109: 92-101.
    • (1991) Arch Ophthalmol , vol.109 , pp. 92-101
    • Berson, E.L.1    Rosner, B.2    Sandberg, M.A.3    Dryja, T.P.4
  • 13
    • 0025849685 scopus 로고
    • Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine
    • Berson EL, Rosner B, Sandberg MA, Weigel-DiFranco C, Dryja TP. Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine. Am J Ophthalmol 1991; 111: 614-623.
    • (1991) Am J Ophthalmol , vol.111 , pp. 614-623
    • Berson, E.L.1    Rosner, B.2    Sandberg, M.A.3    Weigel-DiFranco, C.4    Dryja, T.P.5
  • 14
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    • Ribozyme rescue of photoreceptor cells in a transgenic rat model of autosomal dominant retinitis pigmentosa
    • Lewin AS, Drenser KA, Hauswirth WW, et al. Ribozyme rescue of photoreceptor cells in a transgenic rat model of autosomal dominant retinitis pigmentosa. Nat Med 1998; 4: 967-971.
    • (1998) Nat Med , vol.4 , pp. 967-971
    • Lewin, A.S.1    Drenser, K.A.2    Hauswirth, W.W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.