Title: Functional analysis of three splicing mutations identified in the PMM2 gene: Towards new therapeutic approaches in congenital disorder of glycosylation type-Ia
Authors: Vega, A
Perez-Cerda, C
Desviat, L. R
Matthijs, Gert
Adamowicz, M
Ugarte, M
Perez, B #
Issue Date: Aug-2008
Publisher: MTP Press
Host Document: Journal of Inherited Metabolic Disease vol:31 pages:51-51
Conference: - date:-
ISSN: 0141-8955
Publication status: published
KU Leuven publication type: IMa
Appears in Collections:Department of Human Genetics - miscellaneous
# (joint) last author

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