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Volumn 42, Issue 1, 1997, Pages 169-180

Detection of the CTG repeat expansion in congenital myotonic dystrophy

Author keywords

congenital form; genetic anticipation; myotonic dystrophy (DM); parental bias; trinucleotide (CTG) repeat mutation

Indexed keywords

REPETITIVE DNA;

EID: 0030920838     PISSN: 09168478     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02766919     Document Type: Article
Times cited : (5)

References (21)
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    • Goldman A, Ramsay M, Jenkins T (1994) Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats. J Med Genet 31: 37-40
    • (1994) J Med Genet , vol.31 , pp. 37-40
    • Goldman, A.1    Ramsay, M.2    Jenkins, T.3
  • 10
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    • Origin of the expansion mutation in myotonic dystrophy
    • Imbert G, Kretz C, Johnson K, Mandel J-L (1993): Origin of the expansion mutation in myotonic dystrophy. Nature Genet 4: 72-76
    • (1993) Nature Genet , vol.4 , pp. 72-76
    • Imbert, G.1    Kretz, C.2    Johnson, K.3    Mandel, J.-L.4
  • 11
    • 0025794158 scopus 로고
    • Genetic risks for children of women with myotonic dystrophy
    • Koch MC, Grimm T, Harley HG, Harper PS (1991) Genetic risks for children of women with myotonic dystrophy. Am J Hum Genet 48: 1084-1091
    • (1991) Am J Hum Genet , vol.48 , pp. 1084-1091
    • Koch, M.C.1    Grimm, T.2    Harley, H.G.3    Harper, P.S.4
  • 14
    • 0027416569 scopus 로고
    • Characterization and polymerase chain reaction (PCR) detection of an Alu detection polymorphism in total linkage disequilibrium with myotonic dystrophy
    • Mahadevan MS, Foitzik MA, Surh LC, Korneluk RG (1993b): Characterization and polymerase chain reaction (PCR) detection of an Alu detection polymorphism in total linkage disequilibrium with myotonic dystrophy. Genomics 15: 446-448
    • (1993) Genomics , vol.15 , pp. 446-448
    • Mahadevan, M.S.1    Foitzik, M.A.2    Surh, L.C.3    Korneluk, R.G.4
  • 18
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    • Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy
    • Tsilfidis C, MacKenzie AE, Mettler G, Barcelö J, Korneluk RG (1992): Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nature Genet 1: 192-195
    • (1992) Nature Genet , vol.1 , pp. 192-195
    • Tsilfidis, C.1    MacKenzie, A.E.2    Mettler, G.3    Barcelö, J.4    Korneluk, R.G.5
  • 19
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    • Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent
    • Wong LJC, Ashizawa T, Monckton DG, Caskey CT, Richard CS (1995): Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am J Hum Genet 56: 114-122
    • (1995) Am J Hum Genet , vol.56 , pp. 114-122
    • Wong, L.J.C.1    Ashizawa, T.2    Monckton, D.G.3    Caskey, C.T.4    Richard, C.S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.