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Volumn 120 A, Issue 1, 2003, Pages 5-7

Dilated cardiomyopathy and new 16 bp deletion in Exon 44 of the Dystrophin gene: The possible role of repeated motifs in mutation generation

Author keywords

Cardiomyopathy; Duchenne muscular dystrophy (DMD); Dystrophin gene defects; Repeated motifs

Indexed keywords

DNA; DYSTROPHIN;

EID: 0041821951     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (11)

References (10)
  • 1
    • 0025244924 scopus 로고
    • Detection of 98-percent DMD/BMD gene deletions by polymerase chain reaction
    • Beggs AH, Koenig M, Boyce FM, Kunkel LM. 1990. Detection of 98-percent DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 86:45-48.
    • (1990) Hum Genet , vol.86 , pp. 45-48
    • Beggs, A.H.1    Koenig, M.2    Boyce, F.M.3    Kunkel, L.M.4
  • 2
    • 0024245082 scopus 로고
    • Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
    • Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. 1989. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 16:11141-11156.
    • (1989) Nucleic 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
  • 6
    • 0025762012 scopus 로고
    • Gene deletions causing human genetic diseases: Mechanisms of mutagenesis and the role of the local DNA sequence environment
    • Krawczak M, Cooper DN. 1991. Gene deletions causing human genetic diseases: Mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86:425-441.
    • (1991) Hum Genet , vol.86 , pp. 425-441
    • Krawczak, M.1    Cooper, D.N.2
  • 8
    • 0030991489 scopus 로고    scopus 로고
    • Large majority of single nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis
    • Todorova A, Danieli GA. 1997. Large majority of single nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis. Hum Mutat 9:537-547.
    • (1997) Hum Mutat , vol.9 , pp. 537-547
    • Todorova, A.1    Danieli, G.A.2
  • 9
    • 0029795153 scopus 로고    scopus 로고
    • Mutation analysis in Duchenne and Becker muscular dystrophy patients from Bulgaria shows a peculiar distribution of breakpoints by intron
    • Todorova A, Bronzova J, Miorin M, Rosa M, Kremensky I, Danieli GA. 1996. Mutation analysis in Duchenne and Becker muscular dystrophy patients from Bulgaria shows a peculiar distribution of breakpoints by intron. Am J Med Genet 65:40-43.
    • (1996) Am J Med Genet , vol.65 , pp. 40-43
    • Todorova, A.1    Bronzova, J.2    Miorin, M.3    Rosa, M.4    Kremensky, I.5    Danieli, G.A.6
  • 10
    • 33646210786 scopus 로고    scopus 로고
    • Single-nucleotide mutations in the human dystrophin gene. The possible role of sequence motifs and repeated elements in mutagenesis
    • Todorova A, Fracasso C, Kremensky I, Danieli GA. 1999. Single-nucleotide mutations in the human dystrophin gene. The possible role of sequence motifs and repeated elements in mutagenesis. Balkan J of Med Genet 4:13-20.
    • (1999) Balkan J of Med Genet , vol.4 , pp. 13-20
    • Todorova, A.1    Fracasso, C.2    Kremensky, I.3    Danieli, G.A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.