Associated Papers
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
Velho RV et al.
Human Mutation, 2019
Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.
Velho RV et al.
Journal of Human Genetics, 2016
Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.
Liu S et al.
Gene, 2014
Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma.
Gao Y et al.
Molecular Genetics and Metabolism, 2011
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