GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms
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GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms. / Sperb-Ludwig, Fernanda; Acosta, AX; Ribeiro, EM; Kim, CA; Gandelman Horovitz, DD; Boy, R; Rodovalho-Doriqui, MJ; Lourenço, LM; Santos, ES; Braulke, Thomas; Pohl, Sandra; Schwartz, IVD.
In: INT J BIOCHEM CELL B, Vol. 92, 2017, p. 90-94.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms
AU - Sperb-Ludwig, Fernanda
AU - Acosta, AX
AU - Ribeiro, EM
AU - Kim, CA
AU - Gandelman Horovitz, DD
AU - Boy, R
AU - Rodovalho-Doriqui, MJ
AU - Lourenço, LM
AU - Santos, ES
AU - Braulke, Thomas
AU - Pohl, Sandra
AU - Schwartz, IVD
PY - 2017
Y1 - 2017
U2 - 10.1016/j.biocel.2017.09.006
DO - 10.1016/j.biocel.2017.09.006
M3 - SCORING: Journal article
VL - 92
SP - 90
EP - 94
JO - INT J BIOCHEM CELL B
JF - INT J BIOCHEM CELL B
SN - 1357-2725
ER -