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Volumn 54, Issue 4, 1998, Pages 354-357

Molecular analysis of two pre-mutations in myotonic dystrophy

Author keywords

CTG repeat expansion; DMPK gene; Myotonic dystrophy; Pre mutation

Indexed keywords

ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CONTROLLED STUDY; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN CELL; MALE; MOLECULAR GENETICS; MYOTONIC DYSTROPHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

EID: 0031786139     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1998.5440416.x     Document Type: Article
Times cited : (2)

References (10)
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    • Über das klinische und anatomische Bild des Muskelschwunds der Myotoniker
    • Steinert H. Über das klinische und anatomische Bild des Muskelschwunds der Myotoniker. Dtsch Z Nervenheilkd 1909: 37: 58-104.
    • (1909) Dtsch Z Nervenheilkd , vol.37 , pp. 58-104
    • Steinert, H.1
  • 2
    • 0001739366 scopus 로고
    • Myotonia atrophica
    • Batten FE, Gibb HP. Myotonia atrophica. Brain 1909: 32: 187-205.
    • (1909) Brain , vol.32 , pp. 187-205
    • Batten, F.E.1    Gibb, H.P.2
  • 6
    • 0027251874 scopus 로고
    • Origin of the expansion mutation in myotonic dystrophy
    • Imbert G, Kretz C, Johnson K, Mandel JL. Origin of the expansion mutation in myotonic dystrophy. Nat Genet 1993: 4: 72-76.
    • (1993) Nat Genet , vol.4 , pp. 72-76
    • Imbert, G.1    Kretz, C.2    Johnson, K.3    Mandel, J.L.4
  • 7
    • 0028156915 scopus 로고
    • High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation
    • Neville CE, Mahadevan MS, Barceló JM, Korneluk RG. High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation. Hum Mol Genet 1994: 3: 45-51.
    • (1994) Hum Mol Genet , vol.3 , pp. 45-51
    • Neville, C.E.1    Mahadevan, M.S.2    Barceló, J.M.3    Korneluk, R.G.4
  • 8
    • 0028242797 scopus 로고
    • Simple repeat DNA is not replicated simply
    • Richards RI, Sutherland GR. Simple repeat DNA is not replicated simply. Nat Genet 1994: 6: 114-116.
    • (1994) Nat Genet , vol.6 , pp. 114-116
    • Richards, R.I.1    Sutherland, G.R.2
  • 9
    • 0028873248 scopus 로고
    • Somatic mosaicism, germline expansion, germline reversion and intergenerational reductions in myotonic dystrophy males-small pool PCR analyses
    • Monckton DG, Wong LJC, Ashizawa T, Caskey CT. Somatic mosaicism, germline expansion, germline reversion and intergenerational reductions in myotonic dystrophy males-small pool PCR analyses. Hum Mol Genet 1995: 4: 1-8.
    • (1995) Hum Mol Genet , vol.4 , pp. 1-8
    • Monckton, D.G.1    Wong, L.J.C.2    Ashizawa, T.3    Caskey, C.T.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.