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Volumn 52, Issue 3, 1999, Pages 638-640

A novel deletion of the dystrophin s-promoter region cosegregating with mental retardation

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN;

EID: 0032977092     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.52.3.638     Document Type: Article
Times cited : (8)

References (9)
  • 2
    • 0027214837 scopus 로고
    • An alternative dystrophin transcript specific to peripheral nerve
    • Byers TJ, Lidov HGW, Kunkel LM. An alternative dystrophin transcript specific to peripheral nerve. Nat Genet 1993;4:77-81.
    • (1993) Nat Genet , vol.4 , pp. 77-81
    • Byers, T.J.1    Lidov, H.G.W.2    Kunkel, L.M.3
  • 3
    • 0028808198 scopus 로고
    • Reevaluation of the distributions of dystrophin and utrophin in sciatic nerve
    • Fabbrizio E, Latouche J, Rivier F, Hugon G, Mornet D. Reevaluation of the distributions of dystrophin and utrophin in sciatic nerve. Biochem J 1995;312:309-314.
    • (1995) Biochem J , vol.312 , pp. 309-314
    • Fabbrizio, E.1    Latouche, J.2    Rivier, F.3    Hugon, G.4    Mornet, D.5
  • 4
    • 0027052612 scopus 로고
    • Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability
    • Hodgson SV, Abbs S, Clark S, et al. Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability. Neuromuscul Disord 1992;2:269-276.
    • (1992) Neuromuscul Disord , vol.2 , pp. 269-276
    • Hodgson, S.V.1    Abbs, S.2    Clark, S.3
  • 5
    • 0029144051 scopus 로고
    • Protein truncation test: Analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation
    • Tuffery S, Lenk U, Roberts RG, Coubes C, Demaille J, Claustres M. Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation. Hum Mutat 1995;6: 126-135.
    • (1995) Hum Mutat , vol.6 , pp. 126-135
    • Tuffery, S.1    Lenk, U.2    Roberts, R.G.3    Coubes, C.4    Demaille, J.5    Claustres, M.6
  • 6
    • 0030016360 scopus 로고    scopus 로고
    • A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave
    • Lenk U, Oexle K, Voit T, et al. A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave. Hum Mol Genet 1996;5:973-975.
    • (1996) Hum Mol Genet , vol.5 , pp. 973-975
    • Lenk, U.1    Oexle, K.2    Voit, T.3
  • 7
    • 0026046262 scopus 로고
    • Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy Kobe
    • Matsuo M, Masumura T, Nishio H, et al. Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy Kobe. J Clin Invest 1991;87:2127-2131.
    • (1991) J Clin Invest , vol.87 , pp. 2127-2131
    • Matsuo, M.1    Masumura, T.2    Nishio, H.3
  • 8
    • 0030725216 scopus 로고    scopus 로고
    • Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy
    • Shiga N, Takeshima Y, Sakamoto H, et al. Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy. J Clin Invest 1997;100:2204-2210.
    • (1997) J Clin Invest , vol.100 , pp. 2204-2210
    • Shiga, N.1    Takeshima, Y.2    Sakamoto, H.3
  • 9
    • 0029937778 scopus 로고    scopus 로고
    • Cognitive dysfunction as the major presenting feature of Becker's muscular dystrophy
    • North KN, Miller G, Iannaccone ST, et al. Cognitive dysfunction as the major presenting feature of Becker's muscular dystrophy. Neurology 1996;46:461-465.
    • (1996) Neurology , vol.46 , pp. 461-465
    • North, K.N.1    Miller, G.2    Iannaccone, S.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.