Mucolipidose de type II
Symptômes
Gestion de la maladie
Gènes analysés
GNPTAB
Bibliographie
Khan SA, Tomatsu SC. Mucolipidoses Overview: Past, Present, and Future. Int J Mol Sci. 2020 Sep 17;21(18):6812.
Paik KH, Song SM, Ki CS, et al. Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA. Hum Mutat. 2005 Oct;26(4):308-14.
Velho RV, De Pace R, Klünder S, et al. Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site. Hum Mol Genet. 2015 Jun 15;24(12):3497-505.
