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Journal of Inherited Metabolic Disease

, Volume 20, Issue 4, pp 611–612 | Cite as

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

  • K. Hodaňová
  • M. Hřebíček
  • M. Červenková
  • J. M. F. G. Aerts
  • J. Zeman
Article

REFERENCES

  1. Beutler E, Gelbart T (1996) Glucocerebrosidase (Gaucher disease). Hum Mutat 8: 207–213.Google Scholar
  2. 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.Google Scholar
  3. Beutler E, Gelbart T, West C (1993) Identification of six new Gaucher disease mutations. Genomics 15: 203–205.Google Scholar

Copyright information

© Kluwer Academic Publishers 1997

Authors and Affiliations

  • K. Hodaňová
    • 1
  • M. Hřebíček
    • 1
  • M. Červenková
    • 1
  • J. M. F. G. Aerts
    • 2
  • J. Zeman
    • 3
  1. 1.Institute of Inherited Metabolic Disorders, 1st Faculty of MedicineCharles UniversityPrahaCzech Republic
  2. 2.E. C. Slater Institute for Biochemical ResearchUniversity of Amsterdam, Academic Medical CenterAmsterdamThe Netherlands
  3. 3.Children's and Adolescent's Hospital, 1st Faculty of MedicineCharles UniversityPragueCzech Republic

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