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Volumn 17, Issue 3, 1996, Pages 95-101

G106R rhodopsin mutation is also present in Spanish ADRP patients

Author keywords

Autosomal dominant; Retinitis pigmentosa; Rhodopsin

Indexed keywords

ARGININE; GLYCINE; RHODOPSIN;

EID: 0029797045     PISSN: 01676784     EISSN: None     Source Type: Journal    
DOI: 10.3109/13816819609057111     Document Type: Article
Times cited : (12)

References (12)
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  • 3
    • 0028245437 scopus 로고
    • Digenic retinitis pigmentosa due to mutations at the unliked peripherin/ RDS and ROM1 loci
    • Kajiwara K, Berson EL, Dryja TP. Digenic retinitis pigmentosa due to mutations at the unliked peripherin/ RDS and ROM1 loci. Science 1994; 264: 1604-1608.
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  • 4
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    • Retinitis pigmentosa
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  • 5
    • 0026879292 scopus 로고
    • Retinal genetics: A nullying effect for rhodopsin
    • McInnes RR, Bascom RA. Retinal genetics: a nullying effect for rhodopsin. Nat Genet 1992; 1: 155-157.
    • (1992) Nat Genet , vol.1 , pp. 155-157
    • McInnes, R.R.1    Bascom, R.A.2
  • 8
    • 0023476285 scopus 로고
    • Detection and localization of single base changes by denaturing gradient gel electrophoresis
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  • 9
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    • Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis
    • Sheffield V, Fishman G, Beck J, Kimura A, Stone E. Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis. Am J Hum Genet 1991; 49: 699-706.
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  • 10
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    • Ocular findings associated with a rhodopsin gene codon 106 mutation: Glycine to arginine change in autosomal dominant retinitis pigmentosa
    • Fishman GA, Stone EM, Gilbert LD, Sheffield VC. Ocular findings associated with a rhodopsin gene codon 106 mutation: glycine to arginine change in autosomal dominant retinitis pigmentosa. Arch Ophthalmol 1992; 10: 646-653.
    • (1992) Arch Ophthalmol , vol.10 , pp. 646-653
    • Fishman, G.A.1    Stone, E.M.2    Gilbert, L.D.3    Sheffield, V.C.4
  • 12
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    • A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa
    • Inglehearn CF, Keen TJ, Bashir R, Jay M, Fitzke F, Bird AC, Crombie A, et al. A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. Hum Mol Genet 1992; 1: 41-45.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.