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Volumn 14, Issue , 2008, Pages 1105-1113

Retinitis pigmentosa: Mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; GENOMIC DNA; INOSINATE DEHYDROGENASE; LYSINE; PRE MESSENGER RNA PROCESSING FACTOR 31; RETINITIS PIGMENTOSA 1; RHODOPSIN;

EID: 45449115020     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (35)

References (24)
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    • Ho AC, Brown GC. J. Arch McNamara, Franco M. Recchia, Carl D. Regillo, and James M. Vander. Retina: Color Atlas and Synopsis of Clinical Ophthalmology (Wills Eye Series) New York: McGraw-Hill, 2003. Page: 170.
  • 6
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    • Retinitis pigmentosa in Spain. The Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa
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    • (1995) Clin Genet , vol.48 , pp. 120-122
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  • 8
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    • Mutation c. 1142 del G in the PRPF31 gene in a family with autosomal dominant retinitis pigmentosa (RP11) and its implications
    • Taira K, Nakazawa M, Sato M. Mutation c. 1142 del G in the PRPF31 gene in a family with autosomal dominant retinitis pigmentosa (RP11) and its implications. Jpn J Ophthalmol 2007; 51:45-8.
    • (2007) Jpn J Ophthalmol , vol.51 , pp. 45-48
    • Taira, K.1    Nakazawa, M.2    Sato, M.3
  • 13
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    • Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa
    • Dryja TP, Hahn LB, Cowley GS, McGee TL, Berson EL. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA 1991; 88:9370-4.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 9370-9374
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  • 16
    • 3042823866 scopus 로고    scopus 로고
    • A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa
    • Xia K, Zheng D, Pan Q, Liu Z, Xi X, Hu Z, Deng H, Liu X, Jiang D, Deng H, Xia J. A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa. Mol Vis 2004; 10:361-5.
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  • 18
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    • Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients
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    • Dikshit, M.1    Agarwal, R.2
  • 19
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    • Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa
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    • Fishman, G.A.1    Stone, E.M.2    Gilbert, L.D.3    Sheffield, V.C.4
  • 20
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    • Rhodopsin gene codon 106 mutation (Gly-to-Arg) in a Japanese family with autosomal - dominant retinitis pigmentosa
    • Budu, Matsumoto M, Hayasaka S, Yamada T, Hayasaka Y. Rhodopsin gene codon 106 mutation (Gly-to-Arg) in a Japanese family with autosomal - dominant retinitis pigmentosa. Jpn J Ophthalmol 2000; 44:610-4.
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  • 21
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    • Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa
    • Waseem NH, Vaclavik V, Webster A, Jenkins SA, Bird AC, Bhattacharya SS. Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2007; 48:1330-4.
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    • Waseem, N.H.1    Vaclavik, V.2    Webster, A.3    Jenkins, S.A.4    Bird, A.C.5    Bhattacharya, S.S.6
  • 23
    • 33847110217 scopus 로고    scopus 로고
    • Mutation c. 1142 del G in the PRPF31 gene in a family with autosomal dominant retinitis pigmentosa (RP11) and its implications
    • Taira K, Nakazawa M, Sato M. Mutation c. 1142 del G in the PRPF31 gene in a family with autosomal dominant retinitis pigmentosa (RP11) and its implications. Jpn J Ophthalmol 2007; 51:45-8.
    • (2007) Jpn J Ophthalmol , vol.51 , pp. 45-48
    • Taira, K.1    Nakazawa, M.2    Sato, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.