Communicated by Elizabeth F. Neufeld
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants†
Article first published online: 29 MAY 2012
© 2012 Wiley Periodicals, Inc.
Volume 33, Issue 8, pages 1161–1165, August 2012
How to Cite
Kroos, M., Hoogeveen-Westerveld, M., Michelakakis, H., Pomponio, R., Van der Ploeg, A., Halley, D., Reuser, A., GAA Database Consortium:, Augoustides-Savvopoulou, P., Ausems, M., Llona, J. B., Bautista Lorite, J., van der Beek, N., Bonafe, L., Cuk, M., D'Hooghe, M., Engelen, B., Farouk, A., Fumic, K., Garcia-Delgado, E., Herzog, A., Hurst, J., Jones, S., Kariminejad, M. H., Küçükçongar, A., Lissens, W., Lund, A., Majoor-Krakauer, D., Kumamoto, S., Maravi, E., Marie, S., Mengel, E., Mavridou, I., Munteis Olivas, E., Najmabadi, H., Okumiya, T., Peric, S., Paschke, E., Plecko, B., Robberecht, W., Serdaroglu, P., Shboul, M., Tansek, M. Z., Tarnutzer, A., Stojanovic, V. R., Tylki-Szymanska, A., Venâncio, M. and Verhoeven, K. (2012), Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants. Hum. Mutat., 33: 1161–1165. doi: 10.1002/humu.22108
- Issue published online: 13 JUL 2012
- Article first published online: 29 MAY 2012
- Manuscript Accepted: 16 APR 2012
- Manuscript Received: 10 JAN 2012
- European Union (health F2/2008 grant agreement 201678); Genzyme, a Sanofi company, Cambridge, Massachusetts
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