Functional Characterization of novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNTPTAB) Gene Mutations Causing Mucolipidosis Types II and IIIA Reveals New Insights into the Genotype-Phenotype Relationship

Autor:	Tappino, B., Chuzhanova, N. A., Regis, S., Dardis, A., Corsolini, F., Stroppiano, M., Tonoli, E., Rosano, C., Beccari, Tommaso, Mucha, J., Blanco, M., Szlago, M., Di Rocco, M., Cooper, D. N., Filocamo, M.
Jazyk:	angličtina
Rok vydání:	2009
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=od______3982::ad45dafb941d2eff03ca236fb84b5b74 http://hdl.handle.net/11391/701097 Zobrazit plný text záznamu