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
Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.
Wang Y et al.
Acta Pharmacologica Sinica, 2019
A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease).
Wang P et al.
Bmc Veterinary Research, 2018
A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby.
Ma GC et al.
American Journal of Medical Genetics. Part A, 2011
Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population.
Plante M et al.
Clinical Genetics, 2008
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
Bargal R et al.
Molecular Genetics and Metabolism, 2006
Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.
Tiede S et al.
Nature Medicine, 2005
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