Journal of Inherited Metabolic Disease

, Volume 19, Issue 1, pp 93–94 | Cite as

Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons

  • P. Li
  • J. N. Thompson
Short Report

Keywords

Public Health Internal Medicine Metabolic Disease Polymorphism Analysis Conformation Polymorphism Analysis 

References

  1. Bach G, Eisenberg F, Cantz M, Neufeld EF (1973) The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase.Proc Natl Acad Sci USA 70: 2134–2138.Google Scholar
  2. Jonsson JJ, Aronovich EL, Braun SE, Whitley CB (1995) Molecular diagnosis of mucopoly-saccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.Am J Hum Genet 56: 597–607.Google Scholar
  3. Wilson PJ, Meaney CA, Hopwood JJ, Morris CP (1993) Sequence of the human iduronate-2-sulfatase (IDS) gene.Genomics 17: 773–775.Google Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1996

Authors and Affiliations

  • P. Li
    • 1
  • J. N. Thompson
    • 1
  1. 1.Laboratory of Medical GeneticsUniversity of Alabama at BirminghamBirminghamUSA

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