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A new polymorphism in the iduronate-2-sulphatase gene. Implications for the diagnosis of Hunter disease

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Journal of Inherited Metabolic Disease

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References

  • Gort L, Chabás A, Coll MJ (1998) Hunter disease in the Spanish population: molecular analysis in 31 families. J Inher Metab Dis 21: 655–661.

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  • Li P, Huffman P, Thompson JN (1995) Mutations of the iduronate–2–sulfatase gene on a T146T background in three patients with Hunter syndrome. Hum Mutat 5: 272–274.

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  • Neufeld EF, Muenzer J (1995) The mucopolysaccharidoses. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease 7th edn. New York: McGraw–Hill, vol. II, 2465–2494.

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Authors and Affiliations

  1. Institut de Bioquímica Clínica, C/Mejía Lequerica, s/n, Edifici Helios III, 08028, Barcelona, Spain

    L. Gort, A. Chabás & M. J. Coll

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  1. L. Gort
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  2. A. Chabás
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  3. M. J. Coll
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Gort, L., Chabás, A. & Coll, M.J. A new polymorphism in the iduronate-2-sulphatase gene. Implications for the diagnosis of Hunter disease. J Inherit Metab Dis 22, 844 (1999). https://doi.org/10.1023/A:1005570410851

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  • DOI: https://doi.org/10.1023/A:1005570410851

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