Japanese-type adult galactosialidosis. A unique and common splice junction mutation causing exon skipping in the protective protein/carboxypeptidase gene.
- 1 January 1990
- journal article
- Published by Japan Academy in Proceedings of the Japan Academy, Series B
- Vol. 66 (10), 217-222
- https://doi.org/10.2183/pjab.66.217