메뉴 건너뛰기




Volumn 102, Issue 6, 1998, Pages 691-694

Ala397Asp mutation of myosin VIA gene segregating in a Spanish family with type-1b Usher syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ASPARAGINE; MYOSIN SUBFRAGMENT;

EID: 0031879888     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050763     Document Type: Article
Times cited : (9)

References (30)
  • 1
    • 0028134902 scopus 로고
    • Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types
    • Bement WM, Hasson T, Wirth JA, Cheney RE, Mooseker MS (1994) Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types. Proc Natl Acad Sci US A 91:6549-6553
    • (1994) Proc Natl Acad Sci us a , vol.91 , pp. 6549-6553
    • Bement, W.M.1    Hasson, T.2    Wirth, J.A.3    Cheney, R.E.4    Mooseker, M.S.5
  • 7
    • 0018110116 scopus 로고
    • Prediction of the secondary structure of proteins from their amino acid sequence
    • Chou PY, Fasman GD (1978) Prediction of the secondary structure of proteins from their amino acid sequence. Adv Enzymol 47:45-147
    • (1978) Adv Enzymol , vol.47 , pp. 45-147
    • Chou, P.Y.1    Fasman, G.D.2
  • 9
    • 0017873321 scopus 로고
    • Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins
    • Garnier J, Osguthorpe DJ, Robson B (1978) Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins. J Mol Biol 120:97-120
    • (1978) J Mol Biol , vol.120 , pp. 97-120
    • Garnier, J.1    Osguthorpe, D.J.2    Robson, B.3
  • 10
    • 0029163054 scopus 로고
    • Molecular motors, membrane movements and physiology: Emerging roles for myosins
    • Hasson T, Mooseker MS (1995) Molecular motors, membrane movements and physiology: emerging roles for myosins. Curr Opin Cell Biol 7:587-594
    • (1995) Curr Opin Cell Biol , vol.7 , pp. 587-594
    • Hasson, T.1    Mooseker, M.S.2
  • 12
    • 0028226978 scopus 로고
    • Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11
    • Keats B, Nouri N, Pelias MZ, Deininger PL, Litt M (1994) Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11. Am J Hum Genet 54:681-686
    • (1994) Am J Hum Genet , vol.54 , pp. 681-686
    • Keats, B.1    Nouri, N.2    Pelias, M.Z.3    Deininger, P.L.4    Litt, M.5
  • 17
    • 0025323589 scopus 로고
    • Mapping recessive ophthalmic diseases: Linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q
    • Lewis RA, Otterud B, Stauffer D, Lalouel J-M, Leppert M (1990) Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q. Genomics 7:250-256
    • (1990) Genomics , vol.7 , pp. 250-256
    • Lewis, R.A.1    Otterud, B.2    Stauffer, D.3    Lalouel, J.-M.4    Leppert, M.5
  • 23
    • 0003154314 scopus 로고
    • Molecular cloning of myosins from the bullfrog saccular macula: A candidate for the adaptation motor
    • Sole CK, Derfler BH, Duyk GM, Corey DP (1994) Molecular cloning of myosins from the bullfrog saccular macula: a candidate for the adaptation motor. Aud Neurosci 1:63-75
    • (1994) Aud Neurosci , vol.1 , pp. 63-75
    • Sole, C.K.1    Derfler, B.H.2    Duyk, G.M.3    Corey, D.P.4
  • 24
    • 0030046902 scopus 로고    scopus 로고
    • Contractile protein mutations and heart disease
    • Vikstrom KL, Leinwand IA (1996) Contractile protein mutations and heart disease. Curr Opin Cell Biol 8:97-105
    • (1996) Curr Opin Cell Biol , vol.8 , pp. 97-105
    • Vikstrom, K.L.1    Leinwand, I.A.2
  • 25
    • 0029089583 scopus 로고
    • Familial hypertrophic cardiomyopathy: A genetic model of cardiac hypertrophy
    • Watkins H, Sedman 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    Sedman, J.G.2    Seidman, C.E.3
  • 29
    • 0030951102 scopus 로고    scopus 로고
    • The autosomal recessive isolated deafness, DFNB2; and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
    • Weil D, Küssel P, Blanchard S, Lévy G, Levi-Acobas F, Drira M, Ayadi H, Petit C (1997) The autosomal recessive isolated deafness, DFNB2; and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 16:191-193
    • (1997) Nat Genet , vol.16 , pp. 191-193
    • Weil, D.1    Küssel, P.2    Blanchard, S.3    Lévy, G.4    Levi-Acobas, F.5    Drira, M.6    Ayadi, H.7    Petit, C.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.