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Journal Abstract Search

202 related items for PubMed ID: 19650763

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  • 5. Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda.
    Jang SB, Kim YG, Cho YS, Suh PG, Kim KH, Oh BH.
    J Biol Chem; 2002 Dec 20; 277(51):49863-9. PubMed ID: 12361953
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  • 6. Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda.
    Gécz J, Hillman MA, Gedeon AK, Cox TC, Baker E, Mulley JC.
    Genomics; 2000 Oct 15; 69(2):242-51. PubMed ID: 11031107
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  • 7. Role of trafficking protein particle complex 2 in medaka development.
    Zappa F, Intartaglia D, Guarino AM, De Cegli R, Wilson C, Salierno FG, Polishchuk E, Sorrentino NC, Conte I, De Matteis MA.
    Traffic; 2024 Jan 15; 25(1):e12924. PubMed ID: 37963679
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  • 8. A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.
    Xia XY, Cui YX, Zhou YC, Zhou X, Shi YC, Wei L, Li XJ, Huang YF, Huang TT.
    Clin Chim Acta; 2009 Dec 15; 410(1-2):39-42. PubMed ID: 19766614
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  • 12. The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site.
    Mumm S, Zhang X, Vacca M, D'Esposito M, Whyte MP.
    Gene; 2001 Aug 08; 273(2):285-93. PubMed ID: 11595175
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  • 13. COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.
    Ho MS, Tsang KY, Lo RL, Susic M, Mäkitie O, Chan TW, Ng VC, Sillence DO, Boot-Handford RP, Gibson G, Cheung KM, Cole WG, Cheah KS, Chan D.
    Hum Mol Genet; 2007 May 15; 16(10):1201-15. PubMed ID: 17403716
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  • 18. [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, Gao XQ, Fan QT, Wang H, Sheng GY, Zhou JH, Gao TZ.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Feb 15; 20(1):15-8. PubMed ID: 12579492
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  • 19. 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 15; 22(3):251-3. PubMed ID: 15952107
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  • 20. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.
    Gedeon AK, Colley A, Jamieson R, Thompson EM, Rogers J, Sillence D, Tiller GE, Mulley JC, Gécz J.
    Nat Genet; 1999 Aug 15; 22(4):400-4. PubMed ID: 10431248
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