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Journal Abstract Search

288 related items for PubMed ID: 14624098

  • 21. A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.
    Wang H, Wu W, Xu Z, Xie J.
    Clin Chim Acta; 2013 Oct 21; 425():30-3. PubMed ID: 23876379
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  • 22. Spondyloepiphyseal dysplasia tarda: report of one case.
    Shu SG, Tsai CR, Chi CS.
    Acta Paediatr Taiwan; 2002 Oct 21; 43(2):106-8. PubMed ID: 12041616
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  • 23. A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree.
    Xia XY, Yu J, Li WW, Li N, Wu QY, Zhou X, Cui YX, Li XJ.
    Genet Mol Res; 2014 Apr 29; 13(2):3362-70. PubMed ID: 24841781
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  • 25. X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families.
    Fiedler J, Le Merrer M, Mortier G, Heuertz S, Faivre L, Brenner RE.
    Hum Mutat; 2004 Jul 29; 24(1):103. PubMed ID: 15221797
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  • 28. 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, Guo R, Niu GH.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Jun 29; 22(3):251-3. PubMed ID: 15952107
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Tiller GE.
    ; 1993 Jun 29. PubMed ID: 20301324
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  • 39. Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men.
    Fiedler J, Bittner M, Puhl W, Brenner RE.
    Clin Genet; 2002 Jul 29; 62(1):94-5. PubMed ID: 12123495
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  • 40. Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda.
    Xiong F, Gao J, Li J, Liu Y, Feng G, Fang W, Chang H, Xie J, Zheng H, Li T, He L.
    Eur J Hum Genet; 2009 Apr 29; 17(4):510-6. PubMed ID: 19002213
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