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Volumn 57, Issue 4, 1999, Pages 417-426

Genotypic diagnosis of Duchenne and Becker muscular dystrophies;Le diagnostic genotypique des myopathies de Duchenne et de Becker

Author keywords

Duchenne muscular dystrophy; Mutations; Prenatal diagnosis; Protein truncation test

Indexed keywords

DYSTROPHIN; PROTEIN;

EID: 0032772269     PISSN: 00033898     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (3)

References (20)
  • 3
    • 77951509701 scopus 로고
    • The rate of spontaneous mutation of a human gene
    • Haldane JBS. The rate of spontaneous mutation of a human gene. J Genet 1935 ;31 : 317-26.
    • (1935) J Genet , vol.31 , pp. 317-326
    • Haldane, J.B.S.1
  • 4
    • 0023906647 scopus 로고
    • Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy
    • Hoffman EP, Fischbeck KH, Brown RH, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 1988 ; 318 : 1363-8.
    • (1988) N Engl J Med , vol.318 , pp. 1363-1368
    • Hoffman, E.P.1    Fischbeck, K.H.2    Brown, R.H.3
  • 5
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    • Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987 ; 50 : 509-17.
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Hoffman, E.P.2    Bertelson, C.J.3    Monaco, A.P.4    Feener, C.5    Kunkel, L.M.6
  • 6
    • 0027470203 scopus 로고
    • The structural and functional diversity of dystrophin
    • Ahn AH, Kunkel LM. The structural and functional diversity of dystrophin. Nature Genet 1993 ; 3 : 283-91.
    • (1993) Nature Genet , vol.3 , pp. 283-291
    • Ahn, A.H.1    Kunkel, L.M.2
  • 9
    • 0024245082 scopus 로고
    • Deletion screenindg of the Duchenne muscular dystrophy locus via multiplex DNA amplification
    • Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screenindg of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleics Acids Res 1988 ; 16 : 11141-56.
    • (1988) Nucleics Acids Res , vol.16 , pp. 11141-11156
    • Chamberlain, J.S.1    Gibbs, R.A.2    Ranier, J.E.3    Nguyen, P.N.4    Caskey, C.T.5
  • 10
    • 0025244924 scopus 로고
    • Detection of 98 % of DMD/BMD gene deletions by polymearse chain reaction
    • Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98 % of DMD/BMD gene deletions by polymearse chain reaction. Hum Genet 1990 ; 86 : 45-8.
    • (1990) Hum Genet , vol.86 , pp. 45-48
    • Beggs, A.H.1    Koenig, M.2    Boyce, F.M.3    Kunkel, L.M.4
  • 11
    • 0023718118 scopus 로고
    • An explanation for the phenotypic differences between patients bearing partiel deletions of the DMD locus
    • Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partiel deletions of the DMD locus. Genomics 1988 ; 2 : 90-5.
    • (1988) Genomics , vol.2 , pp. 90-95
    • Monaco, A.P.1    Bertelson, C.J.2    Liechti-Gallati, S.3    Moser, H.4    Kunkel, L.M.5
  • 12
    • 0025745162 scopus 로고
    • Exploring the molecular basis for variability among patients with becker muscular dystrophy : Dystrophin gene and protein studies
    • Beggs AH, Hoffman EP, Snyder JR, et al. Exploring the molecular basis for variability among patients with Becker muscular dystrophy : dystrophin gene and protein studies. Am J Hum Genet 1991 ; 49 : 54-67.
    • (1991) Am J Hum Genet , vol.49 , pp. 54-67
    • Beggs, A.H.1    Hoffman, E.P.2    Snyder, J.R.3
  • 13
    • 0025159208 scopus 로고
    • Very mild muscular dystrophy associated with the deletion of 46 % of dystrophin
    • England SB, Nicholson LVB, Johnson MA, et al. Very mild muscular dystrophy associated with the deletion of 46 % of dystrophin. Nature 1990; 343: 180-2.
    • (1990) Nature , vol.343 , pp. 180-182
    • England, S.B.1    Nicholson, L.V.B.2    Johnson, M.A.3
  • 14
    • 0025943652 scopus 로고
    • Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms
    • Clemens PR, Fenwick RG, Chamberlain JS, et al. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet 1991 ; 49: 951-60.
    • (1991) Am J Hum Genet , vol.49 , pp. 951-960
    • Clemens, P.R.1    Fenwick, R.G.2    Chamberlain, J.S.3
  • 15
    • 0026950937 scopus 로고
    • Two hot spots of recombination in the DMD gene correlate with the deletion prone regions
    • Oudet C Hanauer A, Clemens P, Caskey T, Mandel JL. Two hot spots of recombination in the DMD gene correlate with the deletion prone regions. Hum Mol Genet 1992 ; 1 : 599-603.
    • (1992) Hum Mol Genet , vol.1 , pp. 599-603
    • Oudet, C.1    Hanauer, A.2    Clemens, P.3    Caskey, T.4    Mandel, J.L.5
  • 16
    • 0029073192 scopus 로고
    • Spectrum of small mutations in the dystrophin coding region
    • Prior TW, Bartolo C, Pearl DK, et al. Spectrum of small mutations in the dystrophin coding region. Am J Hum Genet 1995 ; 57 : 22-33.
    • (1995) Am J Hum Genet , vol.57 , pp. 22-33
    • Prior, T.W.1    Bartolo, C.2    Pearl, D.K.3
  • 17
    • 0027452418 scopus 로고
    • Base substitutions in the human dystrophin gene : Detection by using the single-strand conformation polymorphism (SSCP) technique
    • Tuffery S, Moine P, Demaille J, Claustres M. Base substitutions in the human dystrophin gene : detection by using the single-strand conformation polymorphism (SSCP) technique. Hum Mutat 1993 ; 2 : 368-74.
    • (1993) Hum Mutat , vol.2 , pp. 368-374
    • Tuffery, S.1    Moine, P.2    Demaille, J.3    Claustres, M.4
  • 19
    • 0030016131 scopus 로고    scopus 로고
    • Four novel dystrophin point mutations : Detection by PTT and transcripts analysis in lymphocytes from DMD patients
    • Tuffery S, Bareil C, Demaille J, Claustres M. Four novel dystrophin point mutations : detection by PTT and transcripts analysis in lymphocytes from DMD patients. Eur J Hum Genet 1996 ; 4 : 143-52.
    • (1996) Eur J Hum Genet , vol.4 , pp. 143-152
    • Tuffery, S.1    Bareil, C.2    Demaille, J.3    Claustres, M.4
  • 20
    • 0031900882 scopus 로고    scopus 로고
    • Mutation analysis of the dystrophin gene in southern french DMD or BMD families : From southern blot to protein truncation test
    • Tuffery S, Chambert C, Bareil C, et al. Mutation analysis of the dystrophin gene in Southern french DMD or BMD families : from Southern blot to protein truncation test. Hum Genet 1998 ; 102 : 334-42.
    • (1998) Hum Genet , vol.102 , pp. 334-342
    • Tuffery, S.1    Chambert, C.2    Bareil, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.