GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms

Fernanda Sperb-Ludwig
AX Acosta
EM Ribeiro
CA Kim
DD Gandelman Horovitz
R Boy
MJ Rodovalho-Doriqui
LM Lourenço
ES Santos
Thomas Braulke
Sandra Pohl (Shared last author)
IVD Schwartz (Shared last author)

Related Research units

Department of Pediatrics

Bibliographical data

Original language	English
ISSN	1357-2725
DOIs	https://doi.org/10.1016/j.biocel.2017.09.006
Publication status	Published - 2017

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