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Volumn 25, Issue 4, 2008, Pages 421-423

Mutational analysis in a family with X-linked spondyloepiphyseal dysplasia tarda

Author keywords

Gene diagnosis; SEDL gene; X linked spondyloepiphyseal dysplasia tarda

Indexed keywords

COMPLEMENTARY DNA;

EID: 50249149632     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (5)

References (10)
  • 1
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    • The molecular basis of X-linked spondyloepiphyseal dysplasia tarda
    • Gedeon AK, Tiller GE, Le Merrer M, et al. The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet, 2001, 68:1386-1397.
    • (2001) Am J Hum Genet , vol.68 , pp. 1386-1397
    • Gedeon, A.K.1    Tiller, G.E.2    Le Merrer, M.3
  • 2
    • 0032769695 scopus 로고    scopus 로고
    • Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda
    • Gedeon AK, Colley A, Jamieson R, et al. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nat Genet, 1999, 22:400-404.
    • (1999) Nat Genet , vol.22 , pp. 400-404
    • Gedeon, A.K.1    Colley, A.2    Jamieson, R.3
  • 3
    • 0034667324 scopus 로고    scopus 로고
    • Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda
    • Gecz J, Hillman MA, Gedeon AK, et al. Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda. Genomics, 2000, 69:242-251.
    • (2000) Genomics , vol.69 , pp. 242-251
    • Gecz, J.1    Hillman, M.A.2    Gedeon, A.K.3
  • 4
    • 0037147148 scopus 로고    scopus 로고
    • Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda
    • Jang SB, Kim YG, Cho YS, et al. Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda. J Biol Chem, 2002, 277:49863-49869.
    • (2002) J Biol Chem , vol.277 , pp. 49863-49869
    • Jang, S.B.1    Kim, Y.G.2    Cho, Y.S.3
  • 5
    • 17844391255 scopus 로고    scopus 로고
    • Mutational analysis in X-Linked spondyloepiphyseal dysplasia tarda
    • Christie PT, Curley A, Nesbit MA, et al. Mutational analysis in X-Linked spondyloepiphyseal dysplasia tarda. J Clin Endocrinol Metab, 2001, 86:3233-3236.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 3233-3236
    • Christie, P.T.1    Curley, A.2    Nesbit, M.A.3
  • 6
    • 0037427195 scopus 로고    scopus 로고
    • A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family
    • Xiao C, Zhang S, Wang J, et al. A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family. Mutat Res, 2003, 525:61-65.
    • (2003) Mutat Res , vol.525 , pp. 61-65
    • Xiao, C.1    Zhang, S.2    Wang, J.3
  • 7
    • 0037324808 scopus 로고    scopus 로고
    • Identification of a novel mutation IVS2-2A→C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda
    • Gao C, Luo Q, Wang HL, et al. Identification of a novel mutation IVS2-2A→C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda. Chin J Med Genet, 2003, 20:15-18.
    • (2003) Chin J Med Genet , vol.20 , pp. 15-18
    • Gao, C.1    Luo, Q.2    Wang, H.L.3
  • 8
    • 50249106659 scopus 로고    scopus 로고
    • Effect of a novel splicing mutation (IVS2-2A→C) of SEDL gene on RNA processing
    • Luo Q, Gao C, Wang HL, et al. Effect of a novel splicing mutation (IVS2-2A→C) of SEDL gene on RNA processing. Hereditas(Beijing), 2005, 27:544-548.
    • (2005) Hereditas(Beijing) , vol.27 , pp. 544-548
    • Luo, Q.1    Gao, C.2    Wang, H.L.3
  • 9
    • 3943107399 scopus 로고    scopus 로고
    • Identification of a novel mutation of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda
    • Lu JF, Ma HW, Jiang J, et al. Identification of a novel mutation of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda. Chin J Med Genet, 2004, 21:309-311.
    • (2004) Chin J Med Genet , vol.21 , pp. 309-311
    • Lu, J.F.1    Ma, H.W.2    Jiang, J.3
  • 10
    • 20644457915 scopus 로고    scopus 로고
    • Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site
    • Ma HW, Jiang J, Lu JF, et al. Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site. Chin J Med Genet, 2005, 22:251-253.
    • (2005) Chin J Med Genet , vol.22 , pp. 251-253
    • Ma, H.W.1    Jiang, J.2    Lu, J.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.