Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase

Tiede S, Storch S, Lübke T, Henrissat B, Bargal R, Raas-Rothschild A, Braulke T (2006)
Nature Medicine 11(10): 1109-1112.

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Tiede S, Storch S, Lübke T, et al. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nature Medicine. 2006;11(10):1109-1112.
Tiede, S., Storch, S., Lübke, T., Henrissat, B., Bargal, R., Raas-Rothschild, A., & Braulke, T. (2006). Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nature Medicine, 11(10), 1109-1112. doi:10.1038/nm1305
Tiede, S., Storch, S., Lübke, T., Henrissat, B., Bargal, R., Raas-Rothschild, A., and Braulke, T. (2006). Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nature Medicine 11, 1109-1112.
Tiede, S., et al., 2006. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nature Medicine, 11(10), p 1109-1112.
S. Tiede, et al., “Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase”, Nature Medicine, vol. 11, 2006, pp. 1109-1112.
Tiede, S., Storch, S., Lübke, T., Henrissat, B., Bargal, R., Raas-Rothschild, A., Braulke, T.: Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nature Medicine. 11, 1109-1112 (2006).
Tiede, Stephan, Storch, Stephan, Lübke, Torben, Henrissat, Bernhard, Bargal, Ruth, Raas-Rothschild, Annick, and Braulke, Thomas. “Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase”. Nature Medicine 11.10 (2006): 1109-1112.
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79 Citations in Europe PMC

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When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
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Freeze HH., Nat Rev Genet 7(7), 2006
PMID: 16755287

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Data provided by Europe PubMed Central.


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