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A Simple and Rapid Method for Detection of the 1069Gln Mutation in Wilson Disease

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Abstract

A simple and rapid method for detecting the 1069Gln mutation in gene ATP7B based on a PCR specific for this allele has been developed. The 1069Gln mutation is the main cause of Wilson disease (WD) in Russia and accounts for approximately 40% of all mutant alleles of gene ATP7B. Therefore, the method proposed makes the postnatal and prenatal diagnosis of Wilson disease in Russia considerably more rapid and less expensive.

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Authors and Affiliations

  1. Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, 123182, Russia

    M. I. Shadrina, P. A. Slominsky & S. A. Limborska

  2. Institute of Neurology, Russian Academy of Medical Sciences, Moscow, 121116, Russia

    A. V. Karabanov & I. A. Ivanova-Smolenskaya

Authors
  1. M. I. Shadrina
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  2. P. A. Slominsky
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  3. A. V. Karabanov
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  4. I. A. Ivanova-Smolenskaya
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  5. S. A. Limborska
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Shadrina, M.I., Slominsky, P.A., Karabanov, A.V. et al. A Simple and Rapid Method for Detection of the 1069Gln Mutation in Wilson Disease. Russian Journal of Genetics 38, 1463–1465 (2002). https://doi.org/10.1023/A:1021664511575

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  • DOI: https://doi.org/10.1023/A:1021664511575

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