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Volumn 65, Issue 1, 1996, Pages 40-43

Mutation analysis in Duchenne and Becker muscular dystrophy patients from Bulgaria shows a peculiar distribution of breakpoints by intron

Author keywords

Becker muscular dystrophy; breakpoints; Duchenne muscular dystrophy; dystrophin deletions; dystrophin duplications

Indexed keywords

DYSTROPHIN;

EID: 0029795153     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961002)65:1<40::AID-AJMG6>3.0.CO;2-1     Document Type: Article
Times cited : (10)

References (17)
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    • (1994) Hum Genet , vol.93 , pp. 170-174
    • Bronzova, J.1    Todorova, A.2    Kalaydjieva, L.3
  • 3
    • 0024245082 scopus 로고
    • Deletion screening of the Duchenue Muscular dystrophy locus via multiplex DNA amplification
    • Chambrelain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT (1988): Deletion screening of the Duchenue Muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 16:11141-11156.
    • (1988) Nucleic Acids Res , vol.16 , pp. 11141-11156
    • Chambrelain, J.S.1    Gibbs, R.A.2    Ranier, J.E.3    Nguyen, P.N.4    Caskey, C.T.5
  • 7
    • 0028940944 scopus 로고
    • Deletion patterns of Duchenne and Becker muscular dystrophies in Greece
    • Florentin L, Mavrou A, Kekou K, Metaxotou C (1994): Deletion patterns of Duchenne and Becker muscular dystrophies in Greece. J Med Genet 32:48-51.
    • (1994) J Med Genet , vol.32 , pp. 48-51
    • Florentin, L.1    Mavrou, A.2    Kekou, K.3    Metaxotou, C.4
  • 8
    • 0028277482 scopus 로고
    • A study on duplications of the dystrophin gene: Evidence of a geographical difference in the distribution of breakpoints by intron
    • Galvagni F, Saad FA, Danieli GA, Miorin M, Vitiello L, Mostacciuolo ML, Angelini C (1994): A study on duplications of the dystrophin gene: Evidence of a geographical difference in the distribution of breakpoints by intron. Hum Genet 94:83-87.
    • (1994) Hum Genet , vol.94 , pp. 83-87
    • Galvagni, F.1    Saad, F.A.2    Danieli, G.A.3    Miorin, M.4    Vitiello, L.5    Mostacciuolo, M.L.6    Angelini, C.7
  • 10
    • 0027198597 scopus 로고
    • Screening for deletions and RFLP analysis in Turkish DMD/BMD families by PCR
    • Gökgöz N, Kuseyri F, Topaloglu H, Yuksel-Apak M, Kirdar B (1993): Screening for deletions and RFLP analysis in Turkish DMD/BMD families by PCR. Clin Genet 43:261-266.
    • (1993) Clin Genet , vol.43 , pp. 261-266
    • Gökgöz, N.1    Kuseyri, F.2    Topaloglu, H.3    Yuksel-Apak, M.4    Kirdar, B.5
  • 13
    • 0029153184 scopus 로고
    • Genomic organization of the human dystrophin gene across the major deletion hot spot and the 3′ region
    • Nobile C, Galvagni F, Marchi J, Roberts R, Vitiello L (1995): Genomic organization of the human dystrophin gene across the major deletion hot spot and the 3′ region. Genomics 28:97-100.
    • (1995) Genomics , vol.28 , pp. 97-100
    • Nobile, C.1    Galvagni, F.2    Marchi, J.3    Roberts, R.4    Vitiello, L.5
  • 14
    • 0000033327 scopus 로고
    • Rapid detection of human dystrophin gene mutations by multiplex semi-quantitative PCR (MSQPCR)
    • Saad FA, Galvagni F, Danieli GA (1993): Rapid detection of human dystrophin gene mutations by multiplex semi-quantitative PCR (MSQPCR). Basic and Applied Myology 3:229-231.
    • (1993) Basic and Applied Myology , vol.3 , pp. 229-231
    • Saad, F.A.1    Galvagni, F.2    Danieli, G.A.3
  • 15
    • 0028084292 scopus 로고
    • Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular dystrophy patients
    • Shomrat R, Gluck E, Legum C, Shiloh Y (1994): Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular dystrophy patients. Am J Med Genet 49:369-373.
    • (1994) Am J Med Genet , vol.49 , pp. 369-373
    • Shomrat, R.1    Gluck, E.2    Legum, C.3    Shiloh, Y.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.