Associated Papers
Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers.
Kazemi N et al.
Gene, 2018
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
Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.
Raza MH et al.
European Journal of Human Genetics : Ejhg, 2016
Mannose-6-phosphate pathway: a review on its role in lysosomal function and dysfunction.
Coutinho MF et al.
Molecular Genetics and Metabolism, 2012
Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.
Schrader KA et al.
The Journal of Pathology, 2011
Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.
Kang C et al.
The New England Journal of Medicine, 2010
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