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Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients

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Abstract

We present a mutational analysis of the iduronate-2-sulfatase (IDS) gene of 36 Russian patients with Hunter syndrome. Among 29 mutant alleles, there were 19 missense mutations, 1 nonsense mutation, 6 mutations affecting splice sites, and 3 major structural alterations resulting in deletions. Of the 25 different mutations, 15 are novel and unique. Most of the missense mutations result in intermediate or severe phenotypes.

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Authors and Affiliations

  1. Beijer Laboratory, Department of Genetics and Pathology, Section of Medical Genetics, Uppsala University, Box 589, S-75123 Uppsala, Sweden Tel: +46-18-17-45-83, Fax: +46-18-52-68-49, , , , , , SE

    S. Karsten, U. Pettersson & Marie-Louise Bondeson

  2. Institute of Medical Genetics, Russian Academy of Medical Sciences, 115478 Moscow, Russia, , , , , , RU

    Elena Voskoboeva, Svetlana Tishkanina & Xcenia Krasnopolskaja

Authors
  1. S. Karsten
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  2. Elena Voskoboeva
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  3. Svetlana Tishkanina
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  4. U. Pettersson
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  5. Xcenia Krasnopolskaja
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  6. Marie-Louise Bondeson
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Received: 1 June 1998 / Accepted: 27 July 1998

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Karsten, S., Voskoboeva, E., Tishkanina, S. et al. Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients. Hum Genet 103, 732–735 (1998). https://doi.org/10.1007/s004390050901

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  • DOI: https://doi.org/10.1007/s004390050901

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