메뉴 건너뛰기




Volumn 42, Issue 2, 1997, Pages 249-253

X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN;

EID: 15144346675     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410420218     Document Type: Article
Times cited : (52)

References (13)
  • 3
    • 0027985787 scopus 로고
    • Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
    • Bione S, Maestrini E, Rivella S, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nature Genet 1994;8:323-327
    • (1994) Nature Genet , vol.8 , pp. 323-327
    • Bione, S.1    Maestrini, E.2    Rivella, S.3
  • 4
    • 0028892092 scopus 로고
    • Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy
    • Klauck SM, Wilgenbus P, Yates JRW, et al. Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. Hum Mol Genet 1995;4:1853-1857
    • (1995) Hum Mol Genet , vol.4 , pp. 1853-1857
    • Klauck, S.M.1    Wilgenbus, P.2    Yates, J.R.W.3
  • 5
    • 0028865862 scopus 로고
    • Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease
    • Bione S, Small K, Aksmanovic VMA, et al. Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Hum Mol Genet 1995;4:1859-1863
    • (1995) Hum Mol Genet , vol.4 , pp. 1859-1863
    • Bione, S.1    Small, K.2    Aksmanovic, V.M.A.3
  • 6
    • 0028892101 scopus 로고
    • 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, et al. SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. Hum Mol Genet 1995;4:2003-2004
    • (1995) Hum Mol Genet , vol.4 , pp. 2003-2004
    • Nigro, V.1    Bruni, P.2    Ciccodicola, A.3
  • 7
    • 0029988796 scopus 로고    scopus 로고
    • A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy
    • Takeshi Y, Kobayashi T. A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy. Hum Genet 1996;97:693-694
    • (1996) Hum Genet , vol.97 , pp. 693-694
    • Takeshi, Y.1    Kobayashi, T.2
  • 8
    • 0027923827 scopus 로고
    • Bridging the gap
    • Warren G. Bridging the gap. Nature 1993;362:297-298
    • (1993) Nature , vol.362 , pp. 297-298
    • Warren, G.1
  • 9
    • 0029874852 scopus 로고    scopus 로고
    • Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
    • Nagano A, Koga R, Ogawa M, et al. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nature Genet 1996;12:254-259
    • (1996) Nature Genet , vol.12 , pp. 254-259
    • Nagano, A.1    Koga, R.2    Ogawa, M.3
  • 10
    • 0010397284 scopus 로고    scopus 로고
    • The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
    • Manilal S, thi Man N, Sewry CA, Morris GE. The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet 1996;5:801-808
    • (1996) Hum Mol Genet , vol.5 , pp. 801-808
    • Manilal, S.1    Thi Man, N.2    Sewry, C.A.3    Morris, G.E.4
  • 11
    • 0023806075 scopus 로고
    • Single step purification of polypeptides expressed in E. coli as fusions with glutathione S-transferase
    • Smith DB, Johnson KS. Single step purification of polypeptides expressed in E. coli as fusions with glutathione S-transferase. Gene 1988;67:31-40
    • (1988) Gene , vol.67 , pp. 31-40
    • Smith, D.B.1    Johnson, K.S.2
  • 13
    • 0030053280 scopus 로고    scopus 로고
    • Diagnosis of merosin (laminin 2) deficient congenital muscular dystrophy by skin biopsy
    • Sewry CA, Philpot J, Sorokin LM, et al. Diagnosis of merosin (laminin 2) deficient congenital muscular dystrophy by skin biopsy. Lancet 1996;347:582-584
    • (1996) Lancet , vol.347 , pp. 582-584
    • Sewry, C.A.1    Philpot, J.2    Sorokin, L.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.