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Incorrect assignment of N370S mutation status by mismatched PCR/RFLP method in two Gaucher patients

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Journal of Inherited Metabolic Disease

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REFERENCES

  • Beutler E, Gelbart T (1996) Glucocerebrosidase (Gaucher disease). Hum Mutat 8: 207–213.

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  • Beutler E, Gelbart T, West C (1990) The facile detection of the nt 1226 mutation of glucocerebrosidase by ‘mismatched’ PCR. Clin Chim Acta 194: 161–166.

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  • Beutler E, Gelbart T, West C (1993) Identification of six new Gaucher disease mutations. Genomics 15: 203–205.

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Authors and Affiliations

  1. Institute of Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University, Praha, Czech Republic

    K. Hodaňová, M. Hřebíček & M. Červenková

  2. E. C. Slater Institute for Biochemical Research, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands

    J. M. F. G. Aerts

  3. Children's and Adolescent's Hospital, 1st Faculty of Medicine, Charles University, Prague, Czech Republic

    J. Zeman

Authors
  1. K. Hodaňová
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  2. M. Hřebíček
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  3. M. Červenková
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  4. J. M. F. G. Aerts
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  5. J. Zeman
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Hodaňová, K., Hřebíček, M., Červenková, M. et al. Incorrect assignment of N370S mutation status by mismatched PCR/RFLP method in two Gaucher patients. J Inherit Metab Dis 20, 611–612 (1997). https://doi.org/10.1023/A:1005331814799

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  • DOI: https://doi.org/10.1023/A:1005331814799

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