Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.
作者： Ági K. Gedeon , Alison Colley , Robyn Jamieson , Elizabeth M. Thompson , John Rogers
DOI: 10.1038/11976
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摘要: Spondyloepiphyseal dysplasia tarda (SEDL; MIM 313400) is an X-linked recessive osteochondrodysplasia that occurs in approximately two of every one million people 1. This …
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Muhammad Faiyaz ul Haque, Lily M. King, Deborah Krakow, Rita M. Cantor, Michael E. Rusiniak, Richard T. Swank, Andrea Superti-Furga, Sayedul Haque, Hasan Abbas, Wasim Ahmad, Mahmud Ahmad, Daniel H. Cohn, Mutations in Orthologous Genes in Human Spondyloepimetaphyseal Dysplasia and the Brachymorphic Mouse Nature Genetics. ,vol. 20, pp. 157- 162 ,(1998) , 10.1038/2458
J M Lalouel, G M Lathrop, Easy calculations of lod scores and genetic risks on small computers. American Journal of Human Genetics. ,vol. 36, pp. 460- 465 ,(1984)
Colette Dib, Sabine Fauré, Cécile Fizames, Delphine Samson, Nathalie Drouot, Alain Vignal, Philippe Millasseau, Sophie Marc, Jamile Kazan, Eric Seboun, Mark Lathrop, Gabor Gyapay, Jean Morissette, Jean Weissenbach, A comprehensive genetic map of the human genome based on 5,264 microsatellites Nature. ,vol. 380, pp. 152- 154 ,(1996) , 10.1038/380152A0
Solange Heuertz, Marcel Nelen, Andrew O.M. Wilkie, Martine Le Merrer, Olivier Delrieu, Luc Larget-Piet, Lisbeth Tranebjaerg, David Bick, Ben Hamel, Bernard A. Van Oost, Pierre Maroteaux, Marie-Claude Hors-Cayla, The Gene for Spondyloepiphyseal Dysplasia (SEDL) Maps to Xp22 between DXS16 and DXS92 Genomics. ,vol. 18, pp. 100- 104 ,(1993) , 10.1006/GENO.1993.1431
Solange Heuertz, Asmae Smahi, Andrew O. M. Wilkie, M. Le Merrer, P. Maroteaux, Marie-Claude Hors-Cayla, Genetic mapping of Xp22.12–p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL) Human Genetics. ,vol. 96, pp. 407- 410 ,(1995) , 10.1007/BF00191797
Y.-P.C. Chang, K.D. Smith, G.J. Dover, Dinucleotide repeat polymorphisms at the DXS85, DXS16 and DXS43 loci. Human Molecular Genetics. ,vol. 3, pp. 1029- 1029 ,(1994) , 10.1093/HMG/3.6.1029
Vinodh Narayanan, Shari Olinsky, Elizabeth Dahle, Sakkubai Naidu, Huda Y. Zoghbi, Mutation analysis of the M6b gene in patients with Rett syndrome American Journal of Medical Genetics. ,vol. 78, pp. 165- 168 ,(1998) , 10.1002/(SICI)1096-8628(19980630)78:2<165::AID-AJMG13>3.0.CO;2-L
P. S. Harper, P. Jenkins, K. M. Laurence, Spondyloepiphyseal dysplasia tarda: a report of four cases in two families British Journal of Radiology. ,vol. 46, pp. 676- 684 ,(1973) , 10.1259/0007-1285-46-549-676
Michael Sacher, Yu Jiang, Jemima Barrowman, Al Scarpa, Judy Burston, Li Zhang, David Schieltz, John R YatesIII, Hagai Abeliovich, Susan Ferro‐Novick, None, TRAPP, a highly conserved novel complex on the cis-Golgi that mediates vesicle docking and fusion The EMBO Journal. ,vol. 17, pp. 2494- 2503 ,(1998) , 10.1093/EMBOJ/17.9.2494
J J MacKenzie, J Fitzpatrick, P Babyn, G B Ferrero, A Ballabio, G Billingsley, D E Bulman, P Strasberg, P N Ray, T Costa, X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred. Journal of Medical Genetics. ,vol. 33, pp. 823- 828 ,(1996) , 10.1136/JMG.33.10.823