R. Penzel
Institute of Pathology
University of Heidelberg
Germany
Name/email consistency: high
- Splice donor site mutation in the lysosomal neuraminidase gene causing exon skipping and complete loss of enzyme activity in a sialidosis patient. Penzel, R., Uhl, J., Kopitz, J., Beck, M., Otto, H.F., Cantz, M. FEBS Lett. (2001)