@article{6e1529623ede41a1a607c0f77f0d72a3,
title = "GM1 Gangliosidosis and Morquio B Disease: Expression Analysis of Missense Mutations Affecting the Catalytic Site of Acid beta-Galactosidase",
author = "Doris Hofer and Karl Paul and Fantur, \{Katrin Medea-Emma\} and M Beck and F Burger and C Caillaud and K Fumic and J Ledvinova and A Lugowska and H Michelakakis and B Radeva and U Ramaswami and Barbara Plecko and Eduard Paschke",
year = "2009",
doi = "10.1002/humu.21031",
language = "English",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "John Wiley and Sons Inc",
}