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125 related items for PubMed ID: 25297591

  • 1. [Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda].
    Li J, Chai X, Lu L, Zhu J, Du X, Zhao L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct; 31(5):604-7. PubMed ID: 25297591
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  • 5. 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; 22(3):251-3. PubMed ID: 15952107
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  • 6. [Gene diagnosis of X-linked spondyloepiphyseal dysplasia tarda by linkage analysis and DNA sequencing].
    Wang HL, Gao C, Luo Q, Sheng GY, Zhou JH, Gao TZ, Peng S, Lu JP.
    Zhonghua Er Ke Za Zhi; 2003 Apr; 41(4):256-9. PubMed ID: 14754526
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  • 7. [Effect of a novel splicing mutation (IVS2-2A-->C) of SEDL gene on RNA processing].
    Luo Q, Gao C, Wang HL, Zhou JH, Gao TZ.
    Yi Chuan; 2005 Jul; 27(4):544-8. PubMed ID: 16120574
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  • 8. [A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree].
    Lin Y, Rao SQ, Yang Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Apr; 25(2):150-3. PubMed ID: 18393234
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  • 9. [Identification of a novel mutation of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda].
    Lu JF, Ma HW, Jiang J, Niu GH, Liu XM.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Aug; 21(4):309-11. PubMed ID: 15300622
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  • 12. [Identification of a missense mutation in SEDL gene from a Chinese family with X-linked spondyloepiphyseal dysplasia tarda].
    Zhou WJ, Zhou SY, Huang SW, Zhou JP, Xu XM.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Feb; 25(1):15-8. PubMed ID: 18247296
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  • 15. A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.
    Zhang C, Du C, Ye J, Ye F, Wang R, Luo X, Liang Y.
    BMC Med Genet; 2020 May 29; 21(1):117. PubMed ID: 32471379
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  • 16. X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable platyspondyly.
    Fiedler J, Frances AM, Le Merrer M, Richter M, Brenner RE.
    Spine (Phila Pa 1976); 2003 Nov 15; 28(22):E478-82. PubMed ID: 14624098
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