Heparan-alpha-glucosaminide N-acetyltransferase
Definition:
References:
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[1]. Stéphanie Durand, et al. Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC. J Biol Chem. 2010 Oct 8;285(41):31233-42. [Content Brief]
[2]. Martin Hrebícek, et al. Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am J Hum Genet. 2006 Nov;79(5):807-19. [Content Brief]
[3]. Matthew Feldhammer, et al. Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. PLoS One. 2009 Oct 13;4(10):e7434. [Content Brief]
[4]. Xiaolian Fan, et al. Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). Am J Hum Genet. 2006 Oct;79(4):738-44. [Content Brief]
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