FEBS Letters
Volume 501, Issue 2 , Pages 135-138 , 20 July 2001

Splice donor site mutation in the lysosomal neuraminidase gene causing exon skipping and complete loss of enzyme activity in a sialidosis patient

Edited by Guido Tettamanti

  • Roland Penzel

      Affiliations

    • Institute of Pathology, University of Heidelberg, Im Neuenheimer Feld 220, D-69120 Heidelberg, Germany
    • These authors contributed equally to this work.
    • Corresponding Author InformationCorresponding author. Fax: (49)-6221-565251
    • ,
  • Johannes Uhl

      Affiliations

    • Department of Pathochemistry and Neurochemistry, University of Heidelberg, Im Neuenheimer Feld 220, D-69120 Heidelberg, Germany
    • These authors contributed equally to this work.
    • ,
  • Jürgen Kopitz

      Affiliations

    • Department of Pathochemistry and Neurochemistry, University of Heidelberg, Im Neuenheimer Feld 220, D-69120 Heidelberg, Germany
    • ,
  • Michael Beck

      Affiliations

    • Children’s Hospital of the Johannes-Gutenberg University, Langenbeckstrasse 1, D-55131 Mainz, Germany
    • ,
  • Herwart F. Otto

      Affiliations

    • Institute of Pathology, University of Heidelberg, Im Neuenheimer Feld 220, D-69120 Heidelberg, Germany
    • ,
  • Michael Cantz

      Affiliations

    • Department of Pathochemistry and Neurochemistry, University of Heidelberg, Im Neuenheimer Feld 220, D-69120 Heidelberg, Germany

Received 30 May 2001 ,Revised 21 June 2001 ,Accepted 21 June 2001.

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PII: S0014-5793(01)02645-X

doi: 10.1016/S0014-5793(01)02645-X

FEBS Letters
Volume 501, Issue 2 , Pages 135-138 , 20 July 2001