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


Public Health Internal Medicine Metabolic Disease Polymorphism Analysis Conformation Polymorphism Analysis 


  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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