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Two new polymorphisms in the human elastin gene (ELN)

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Abstract

Two polymorphisms in the human elastin gene have been detected, one with RsaI and a second with BamHI.

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References

  • Bashir MM, Indik Z, Yeh H, Ornstein-Goldstein N, Rosenbloom JC, Abrams W, Fazio M, Uitto J, Rosenbloom J (1989) Characterization of the complete human elastin gene: delineation of unusual features in the 5′-flanking region. J Biol Chem 264: 8887–8891

    Google Scholar 

  • Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, Keating MT (1993) The elastin gene is disrupted by a translocation associated with Supravalvular Aortic Stenosis. Cell 73: 159–168

    Google Scholar 

  • Fazio MJ, Mattei M, Passage E, Chu M, Black D, Solomon E, Davidson JM, Uitto J (1991) Human elastin gene: new evidence for localization to the long arm of chromosome 7. Am J Hum Genet 48:696–703

    Google Scholar 

  • Sealey PG, Whittaker PA, Southern EM (1985) Removal of repeated sequences from hybridisation probes. Nucleic Acids Res 13:1905–1922

    Google Scholar 

  • Uitto J, Fazio MJ, Olsen DR (1991) Pseudoxanthoma elasticum — heritable disorders of connective tissue. In: Alper JC (ed) Genetic disorders of the skin. Mosby year book, St Louis, pp 300–304

    Google Scholar 

  • Vithayasai C (1973) Exact critical values of the Hardy-Weinberg test statistic for two alleles. Commun Stat 1:229–242

    Google Scholar 

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Authors and Affiliations

  1. Regional Genetic Laboratory and Consultancy Services, Birmingham Heartlands Hospital NHS Trust, B9 5PX, Birmingham, UK

    Mark C. Raybould & Maj Hulten

  2. Population and Environmental Research Group, School of Biological Sciences, The University of Birmingham, B15 2TT, Birmingham, UK

    Andrew J. Birley

Authors
  1. Mark C. Raybould
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  2. Andrew J. Birley
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  3. Maj Hulten
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Raybould, M.C., Birley, A.J. & Hulten, M. Two new polymorphisms in the human elastin gene (ELN). Hum Genet 93, 475–476 (1994). https://doi.org/10.1007/BF00201681

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  • DOI: https://doi.org/10.1007/BF00201681

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