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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
- Institute of Pathology, University of Heidelberg, Im Neuenheimer Feld 220, D-69120 Heidelberg, Germany
- These authors contributed equally to this work.
- Corresponding author. Fax: (49)-6221-565251
Johannes Uhl
- 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
- Department of Pathochemistry and Neurochemistry, University of Heidelberg, Im Neuenheimer Feld 220, D-69120 Heidelberg, Germany
Michael Beck
- Children’s Hospital of the Johannes-Gutenberg University, Langenbeckstrasse 1, D-55131 Mainz, Germany
Herwart F. Otto
- Institute of Pathology, University of Heidelberg, Im Neuenheimer Feld 220, D-69120 Heidelberg, Germany
Michael Cantz
- Department of Pathochemistry and Neurochemistry, University of Heidelberg, Im Neuenheimer Feld 220, D-69120 Heidelberg, Germany