Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP408630.RA_R1bKVjpQLoT-qfSaGwp-5p8HM2juuwH5376HQb3Arw130_assertion> ?p ?o ?g. }
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- NP408630.RA_R1bKVjpQLoT-qfSaGwp-5p8HM2juuwH5376HQb3Arw130_assertion type Assertion NP408630.RA_R1bKVjpQLoT-qfSaGwp-5p8HM2juuwH5376HQb3Arw130_head.
- NP408630.RA_R1bKVjpQLoT-qfSaGwp-5p8HM2juuwH5376HQb3Arw130_assertion wasGeneratedBy ECO_0000203 NP408630.RA_R1bKVjpQLoT-qfSaGwp-5p8HM2juuwH5376HQb3Arw130_provenance.
- NP408630.RA_R1bKVjpQLoT-qfSaGwp-5p8HM2juuwH5376HQb3Arw130_assertion wasDerivedFrom befree-20140225 NP408630.RA_R1bKVjpQLoT-qfSaGwp-5p8HM2juuwH5376HQb3Arw130_provenance.
- NP408630.RA_R1bKVjpQLoT-qfSaGwp-5p8HM2juuwH5376HQb3Arw130_assertion SIO_000772 19479962 NP408630.RA_R1bKVjpQLoT-qfSaGwp-5p8HM2juuwH5376HQb3Arw130_provenance.
- NP408630.RA_R1bKVjpQLoT-qfSaGwp-5p8HM2juuwH5376HQb3Arw130_assertion evidence source_evidence_literature NP408630.RA_R1bKVjpQLoT-qfSaGwp-5p8HM2juuwH5376HQb3Arw130_provenance.
- NP408630.RA_R1bKVjpQLoT-qfSaGwp-5p8HM2juuwH5376HQb3Arw130_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." NP408630.RA_R1bKVjpQLoT-qfSaGwp-5p8HM2juuwH5376HQb3Arw130_provenance.