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Volumn 61, Issue 4, 1997, Pages 813-821

Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in usher 1B families from diverse origins

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN;

EID: 0030869710     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/514899     Document Type: Article
Times cited : (100)

References (32)
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  • 5
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    • The heterogeneity of Usher syndrome. Amsterdam Excerpta Media Foundation
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  • 6
    • 0029794058 scopus 로고    scopus 로고
    • Human Usher 1B/mouse shaker-1: The retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells
    • El-Amraoui A, Shahly I, Picaud S, Sahel J, Abitbol M, Petit C (1996) Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells. Hum Mol Genet 5: 1171-1178
    • (1996) Hum Mol Genet , vol.5 , pp. 1171-1178
    • El-Amraoui, A.1    Shahly, I.2    Picaud, S.3    Sahel, J.4    Abitbol, M.5    Petit, C.6
  • 12
    • 0026794668 scopus 로고
    • The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
    • Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54
    • (1992) Hum Genet , vol.90 , pp. 41-54
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    • Liu XZ, Newton VE, Steel KP, Brown SDM (1997) Identification of a new mutation of the myosin VII head region in Usher syndrome type I. Hum Mut 10:168-170
    • (1997) Hum Mut , vol.10 , pp. 168-170
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  • 16
    • 0029024879 scopus 로고
    • Structural interpretation of mutation in the b-cardiac myosin that have been implicated in familial hypertrophic cardiomypathy
    • Rayment I, Hoden HM, Sellers JR, Fananapazir L, Epste ND (1995) Structural interpretation of mutation in the b-cardiac myosin that have been implicated in familial hypertrophic cardiomypathy. Proc Natl Acad Sci USA 9:3864-3868
    • (1995) Proc Natl Acad Sci USA , vol.9 , pp. 3864-3868
    • Rayment, I.1    Hoden, H.M.2    Sellers, J.R.3    Fananapazir, L.4    Epste, N.D.5
  • 20
    • 1842365784 scopus 로고
    • Haplotype analysis and physical mapping to determine the position of Usher syndrome type 1 (USH1) and closely linked DNA microsatellite on 11q13.5
    • Poster presented St John's College, Oxford, September 26-28, 1994
    • Seroussi E, Korostishevsky M, Kalinsky H, Sheffield VC, Gerhard D, Bonne-Tamir B (1994) Haplotype analysis and physical mapping to determine the position of Usher syndrome type 1 (USH1) and closely linked DNA microsatellite on 11q13.5. Poster presented at the 4th Chromosome 11 Workshop. St John's College, Oxford, September 26-28, 1994
    • (1994) 4th Chromosome 11 Workshop
    • Seroussi, E.1    Korostishevsky, M.2    Kalinsky, H.3    Sheffield, V.C.4    Gerhard, D.5    Bonne-Tamir, B.6
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    • 0027193630 scopus 로고
    • The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions
    • Sheffield VC, Beck JS, Kwitek AE, Sandstrom DW, Stone EM (1993) The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 16(2): 325-332
    • (1993) Genomics , vol.16 , Issue.2 , pp. 325-332
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.