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Mucolipidosis III GNPTG missense mutations cause misfolding of the γ subunit of GlcNAc-1-phosphotransferase
The lysosomal storage disorder mucolipidosis III γ is caused by defects in the γ subunit of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase, the enzyme that tags lysosomal enzymes with the mannose 6-phosphate lysosomal targeting signal. In patients with this disorder, most of th...
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| Published in: | Hum Mutat |
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| Main Authors: | , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
2016
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4907843/ https://ncbi.nlm.nih.gov/pubmed/27038293 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22993 |
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