Associated Papers
Disease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotransferase impair endoplasmic reticulum translocation or Golgi retention.
Lee WS et al.
Human Mutation, 2020
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
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
A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering.
Han TU et al.
Neurobiology of Disease, 2014
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