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Lipid Storage Disorders pp 29–39Cite as

Characterization of the Normal Human Glucocerebrosidase Genes and a Mutated Form in Gaucher’s Patient

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Part of the book series: NATO ASI Series ((NSSA,volume 150))

Abstract

Gaucher’s disease is the most prevalent lysosomal disease1 It is due to the defective activity of the lysosomal enzyme β-acid glucosidase (glucocerebrosidase E.C.3.2.1.45). Based on clinical signs including presence and severity of neuronopathic involvement it has been divided into three major prototypes: Type I is the non-neurcnopathic form and Types II and III are the neuronopathic forms2,3. All three forms of the disease appear to be caused by rotations of the same gene, since complementation cannot be demonstrated4,5.

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Author information

Authors and Affiliations

  1. Department of Chemical Immunology, The Weizmann Institute of Science, Rehovot, 76100, Israel

    Orly Reiner, Meir Wigderson & Mia Horowitz

Authors
  1. Orly Reiner
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  2. Meir Wigderson
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  3. Mia Horowitz
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Editor information

Editors and Affiliations

  1. Paul Sabatier University, Toulouse, France

    Robert Salvayre  & Louis Douste-Blazy  & 

  2. Hebrew University—Hadassah School of Medicine, Jerusalem, Israel

    Shimon Gatt

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© 1988 Plenum Press, New York

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Reiner, O., Wigderson, M., Horowitz, M. (1988). Characterization of the Normal Human Glucocerebrosidase Genes and a Mutated Form in Gaucher’s Patient. In: Salvayre, R., Douste-Blazy, L., Gatt, S. (eds) Lipid Storage Disorders. NATO ASI Series, vol 150. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-1029-7_3

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  • DOI: https://doi.org/10.1007/978-1-4613-1029-7_3

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4612-8300-3

  • Online ISBN: 978-1-4613-1029-7

  • eBook Packages: Springer Book Archive

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