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Heparan-alpha-glucosaminide N-acetyltransferase, also known as HGSNAT, is a human gene.[1]
[edit] References
[edit] Further reading
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Ausseil J, Loredo-Osti JC, Verner A, et al. (2005). "Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8.". J. Med. Genet. 41 (12): 941–5. doi:10.1136/jmg.2004.021501. PMID 15591281.
- Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.
- Nusbaum C, Mikkelsen TS, Zody MC, et al. (2006). "DNA sequence and analysis of human chromosome 8.". Nature 439 (7074): 331–5. doi:10.1038/nature04406. PMID 16421571.
- Fan X, Zhang H, Zhang S, et al. (2006). "Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).". Am. J. Hum. Genet. 79 (4): 738–44. doi:10.1086/508068. PMID 16960811.
- Hrebícek M, Mrázová L, Seyrantepe V, et al. (2006). "Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).". Am. J. Hum. Genet. 79 (5): 807–19. doi:10.1086/508294. PMID 17033958.
- Fedele AO, Filocamo M, Di Rocco M, et al. (2007). "Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.". Hum. Mutat. 28 (5): 523. doi:10.1002/humu.9488. PMID 17397050.
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