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- NP384047.RACgheo4ydBNHUAbmWi5zUvV1ke2fo1zFrqX53qN0X_7k130_assertion type Assertion NP384047.RACgheo4ydBNHUAbmWi5zUvV1ke2fo1zFrqX53qN0X_7k130_head.
- NP384047.RACgheo4ydBNHUAbmWi5zUvV1ke2fo1zFrqX53qN0X_7k130_assertion wasGeneratedBy ECO_0000203 NP384047.RACgheo4ydBNHUAbmWi5zUvV1ke2fo1zFrqX53qN0X_7k130_provenance.
- NP384047.RACgheo4ydBNHUAbmWi5zUvV1ke2fo1zFrqX53qN0X_7k130_assertion wasDerivedFrom befree-20140225 NP384047.RACgheo4ydBNHUAbmWi5zUvV1ke2fo1zFrqX53qN0X_7k130_provenance.
- NP384047.RACgheo4ydBNHUAbmWi5zUvV1ke2fo1zFrqX53qN0X_7k130_assertion SIO_000772 19479962 NP384047.RACgheo4ydBNHUAbmWi5zUvV1ke2fo1zFrqX53qN0X_7k130_provenance.
- NP384047.RACgheo4ydBNHUAbmWi5zUvV1ke2fo1zFrqX53qN0X_7k130_assertion evidence source_evidence_literature NP384047.RACgheo4ydBNHUAbmWi5zUvV1ke2fo1zFrqX53qN0X_7k130_provenance.
- NP384047.RACgheo4ydBNHUAbmWi5zUvV1ke2fo1zFrqX53qN0X_7k130_assertion description "[Mucopolysaccharidosis (MPS) type IIIC or Sanfilippo syndrome type C is a rare autosomal recessive disorder caused by the deficiency of the lysosomal membrane enzyme, heparan sulfate acetyl-CoA (AcCoA): alpha-glucosaminide N-acetyltransferase (HGSNAT; EC 2.3.1.78), which catalyzes transmembrane acetylation of the terminal glucosamine residues of heparan sulfate prior to their hydrolysis by alpha-N-acetylglucosaminidase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP384047.RACgheo4ydBNHUAbmWi5zUvV1ke2fo1zFrqX53qN0X_7k130_provenance.