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Volumn 9, Issue 6, 1997, Pages 526-530

Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy

Author keywords

Emerin gene; Emery Dreifuss muscular dystrophy; Mutations

Indexed keywords

ARTICLE; CLINICAL ARTICLE; EXON; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; INTRON; MUSCULAR DYSTROPHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; X CHROMOSOME LINKED DISORDER;

EID: 0030912342     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1997)9:6<526::aid-humu5>3.0.co;2-%23     Document Type: Article
Times cited : (16)

References (17)
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    • Cole, C.G.1    Abbs, S.J.2    Dubowitz, V.3    Hodgson, S.V.4    Warner, J.5    Merlini, L.6    Bobrow, M.7
  • 6
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    • Emery-Dreifuss syndrome
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    • Emery, A.E.H.1
  • 9
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    • The rate of spontaneous mutation of a human gene
    • Haldane JBS (1935) The rate of spontaneous mutation of a human gene. J Genet 31: 317-326.
    • (1935) J Genet , vol.31 , pp. 317-326
    • Haldane, J.B.S.1
  • 10
    • 0028892092 scopus 로고
    • Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy
    • Klauck SM, Wilgenbus P, JRW Yates, Müller CR, Poustka A (1995) Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. Hum Molec Genet 4: 1853-1857.
    • (1995) Hum Molec Genet , vol.4 , pp. 1853-1857
    • Klauck, S.M.1    Wilgenbus, P.2    Yates, J.R.W.3    Müller, C.R.4    Poustka, A.5
  • 11
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    • The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
    • Manilal S, thi Man N, Sewry CA, Morris GE (1996). The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet 5:
    • (1996) Hum Mol Genet , vol.5
    • Manilal, S.1    Thi Man, N.2    Sewry, C.A.3    Morris, G.E.4
  • 13
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    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res 16: 1215.
    • (1988) Nucleic Acid Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 15
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    • SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: Definition of a small C-terminal region required for emerin function
    • Nigro V, Bruni P, Ciccodicola A, Politano L, Nigro G, Piluso G, Cappa V, Covone AE, Romeo G, D'Urso M (1995) SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: Definition of a small C-terminal region required for emerin function. Hum Molec Genet 4: 2003-2004.
    • (1995) Hum Molec Genet , vol.4 , pp. 2003-2004
    • Nigro, V.1    Bruni, P.2    Ciccodicola, A.3    Politano, L.4    Nigro, G.5    Piluso, G.6    Cappa, V.7    Covone, A.E.8    Romeo, G.9    D'Urso, M.10
  • 16
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    • Detecting single base substitutions as heteroduplex polymorphisms
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    • (1992) Genomics , vol.12 , pp. 301-306
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.