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Volumn 59, Issue 5, 1996, Pages 1074-1083

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN;

EID: 19244362118     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (99)

References (22)
  • 2
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    • 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, Sahly 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    Sahly, I.2    Picaud, S.3    Sahel, J.4    Abitbol, M.5    Petit, C.6
  • 4
    • 0028306509 scopus 로고
    • A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene
    • Guilford P, Ayadi H, Blanchard S, Chaib H, Le Paslier D, Weissenbach J, Drira M, et al (1994) A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum Mol Genet 3:989-993
    • (1994) Hum Mol Genet , vol.3 , pp. 989-993
    • Guilford, P.1    Ayadi, H.2    Blanchard, S.3    Chaib, H.4    Le Paslier, D.5    Weissenbach, J.6    Drira, M.7
  • 9
    • 0029202639 scopus 로고
    • Clinical and molecular genetics of Usher syndrome
    • Kimberling WJ, Möller C (1995) Clinical and molecular genetics of Usher syndrome. J Am Acad Audiol 6:63-72
    • (1995) J Am Acad Audiol , vol.6 , pp. 63-72
    • Kimberling, W.J.1    Möller, C.2
  • 10
    • 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
    • Krawczak, M.1    Reiss, J.2    Cooper, D.N.3
  • 12
    • 0029024879 scopus 로고
    • Structural interpretation of the mutation in the B-cardiac myosin that have been implicated in familial hypertrophie cardiomyopathy
    • Rayment I, Hoden HM, Sellers JR, Fananapazir L, and Epstein ND (1995) Structural interpretation of the mutation in the B-cardiac myosin that have been implicated in familial hypertrophie cardiomyopathy. Proc Natl Acad Sci USA 92:3864-3868
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 3864-3868
    • Rayment, I.1    Hoden, H.M.2    Sellers, J.R.3    Fananapazir, L.4    Epstein, N.D.5
  • 16
    • 0029064776 scopus 로고
    • T to G mutation in the polypyrimidine tract of the second intron of the human B-globin gene reduces in vitro splicing efficiency: Evidence for an increased hnRNP C interaction
    • Sebillon P, Beldjord C, Kaplan J, Brody E, Marie JA (1995) T to G mutation in the polypyrimidine tract of the second intron of the human B-globin gene reduces in vitro splicing efficiency: evidence for an increased hnRNP C interaction. Nucleic Acids Res 23:3419-3425
    • (1995) Nucleic Acids Res , vol.23 , pp. 3419-3425
    • Sebillon, P.1    Beldjord, C.2    Kaplan, J.3    Brody, E.4    Marie, J.A.5
  • 18
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    • Molecular muscle
    • Taylor EW (1993) Molecular muscle. Science 261:35-36
    • (1993) Science , vol.261 , pp. 35-36
    • Taylor, E.W.1
  • 20
    • 0029089583 scopus 로고
    • Familial hypertrophic cardiomyopathy: A genetic model of cardiac hypertrophy
    • Watkins H, Seidman JG, Seidman CE (1995) Familial hypertrophic cardiomyopathy: a genetic model of cardiac hypertrophy. Hum Mol Genet 4:1721-1727
    • (1995) Hum Mol Genet , vol.4 , pp. 1721-1727
    • Watkins, H.1    Seidman, J.G.2    Seidman, C.E.3
  • 22
    • 9244233852 scopus 로고    scopus 로고
    • Human myosin VIIA responsible for the Usher 1B syndrome: A predicted membrane-associated motor protein expressed in developing sensory epithelia
    • Weil D, Levy G, Sahly I, Levi-Acobas F, Blanchard S, El-Amoroui A, Crozet F, et al (1996) Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia. Proc Natl Acad Sci USA 93:3232-3237
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 3232-3237
    • Weil, D.1    Levy, G.2    Sahly, I.3    Levi-Acobas, F.4    Blanchard, S.5    El-Amoroui, A.6    Crozet, F.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.