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Hereditäre Enzymdefekte des Erythrocyten: Expressivität und molekulare Heterogenität anomaler Enzymproteine

Dargestellt am Beispiel von zwei Enzymen des Energiestoffwechsels
  • K. G. Blume
  • H. Arnold
  • G. W. Löhr
Conference paper
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Part of the Ergebnisse der Inneren Medizin und Kinderheilkunde / Advances in Internal Medicine and Pediatrics book series (KINDERHEILK. NF, volume 35)

Summary

After standardized methods for biochemical characterization of glucose-6-phosphate dehydrogenase have become available, more than hundred different genetic variants of this enzyme have been reported. Similar conditions may be assumed for the relatively rare enzyme deficiencies of the Embden-Meyerhof pathway. On the basis of experimental data the variability of the anomalous gene products is demonstrated for glucosephosphate isomerase and pyruvate kinase.

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Nachtrag zur Literatur

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Copyright information

© Springer-Verlag Berlin · Heidelberg 1974

Authors and Affiliations

  • K. G. Blume
  • H. Arnold
  • G. W. Löhr
    • 1
  1. 1.Medizinische Universitätsklinik Freiburg/BreisgauDeutschland

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