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Volumn 13, Issue 2, 1999, Pages 133-140

Twelve novel myosin VIIA mutations in 34 patients with usher syndrome type I: Confirmation of genetic heterogeneity

Author keywords

Genetic heterogeneity; Mutation screening; Myosin VIIA gene; Usher syndrome type I

Indexed keywords

MYOSIN;

EID: 0032912744     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:2<133::AID-HUMU5>3.0.CO;2-U     Document Type: Article
Times cited : (58)

References (22)
  • 1
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    • Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins
    • Adato A, Weil D, Kalinski H, Pel-Or Y, Ayadi H, Petit C, Korostishevsky M, Bonne-Tamir B. 1997. Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. Am J Hum Genet 61:813-821.
    • (1997) Am J Hum Genet , vol.61 , pp. 813-821
    • Adato, A.1    Weil, D.2    Kalinski, H.3    Pel-Or, Y.4    Ayadi, H.5    Petit, C.6    Korostishevsky, M.7    Bonne-Tamir, B.8
  • 2
    • 77957092111 scopus 로고    scopus 로고
    • Simple and nonisotopic methods to detect unknown gene mutations in nucleic acids
    • Adolph KW, editor. Orlando, FL: Academic Press
    • Bunge S, Fuchs S, Gal A. 1996. Simple and nonisotopic methods to detect unknown gene mutations in nucleic acids. In: Adolph KW, editor. Methods in molecular genetics. Vol 8. Orlando, FL: Academic Press, p 26-39.
    • (1996) Methods in Molecular Genetics , vol.8 , pp. 26-39
    • Bunge, S.1    Fuchs, S.2    Gal, A.3
  • 5
    • 15144351296 scopus 로고    scopus 로고
    • Conservation within the myosin motor domain: Implications for structure and function
    • Cope MJTV, Whisstock J, Rayment I, Kendrick-Jones J. 1996. Conservation within the myosin motor domain: implications for structure and function. Structure 4:969-987.
    • (1996) Structure , vol.4 , pp. 969-987
    • Cope, M.J.T.V.1    Whisstock, J.2    Rayment, I.3    Kendrick-Jones, J.4
  • 11
    • 0030805901 scopus 로고    scopus 로고
    • Identification of a new mutation of the myosin VII head region in Usher syndrome type I
    • Liu X-Z, Newton VE, Steel KR Brown SDM. 1997a. Identification of a new mutation of the myosin VII head region in Usher syndrome type I. Hum Mutat 10:168-170.
    • (1997) Hum Mutat , vol.10 , pp. 168-170
    • Liu, X.-Z.1    Newton, V.E.2    Steel, K.R.3    Brown, S.D.M.4
  • 12
    • 0030811605 scopus 로고    scopus 로고
    • Myosin VIIa, the product of the Usher 1B syndrome gene, is concentrated in the connecting cilia of photoreceptor cells
    • Liu X, Vansant G, Udovichenko IP, Wolfram U, Williams DS. 1997b. Myosin VIIa, the product of the Usher 1B syndrome gene, is concentrated in the connecting cilia of photoreceptor cells. Cell Motil Cytoskeleton 37:240-252.
    • (1997) Cell Motil Cytoskeleton , vol.37 , pp. 240-252
    • Liu, X.1    Vansant, G.2    Udovichenko, I.P.3    Wolfram, U.4    Williams, D.S.5
  • 15
    • 0030971763 scopus 로고    scopus 로고
    • A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly
    • Maslen C, Babcock D, Raghunath M, Steinmann B. 1997. A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly. Am J Hum Genet 60:1389-1398.
    • (1997) Am J Hum Genet , vol.60 , pp. 1389-1398
    • Maslen, C.1    Babcock, D.2    Raghunath, M.3    Steinmann, B.4
  • 21
    • 0030951102 scopus 로고    scopus 로고
    • The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome arc allelic defects of the myosin-VIIA gene
    • Weil D, Kussel R Blanchard S, Levy G, Levi-Acobas F, Drira M, Ayadi H, Petit C. 1997. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome arc allelic defects of the myosin-VIIA gene. Nature Genet 16:191-193.
    • (1997) Nature Genet , vol.16 , pp. 191-193
    • Weil, D.1    Kussel, R.2    Blanchard, S.3    Levy, G.4    Levi-Acobas, F.5    Drira, M.6    Ayadi, H.7    Petit, C.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.