Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP741869.RAlvZQ8AUGIn8nIONuXcn0Grocim6N-XVqXANUfJBwexI130_assertion> ?p ?o ?g. }
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- NP741869.RAlvZQ8AUGIn8nIONuXcn0Grocim6N-XVqXANUfJBwexI130_assertion type Assertion NP741869.RAlvZQ8AUGIn8nIONuXcn0Grocim6N-XVqXANUfJBwexI130_head.
- NP741869.RAlvZQ8AUGIn8nIONuXcn0Grocim6N-XVqXANUfJBwexI130_assertion wasGeneratedBy ECO_0000203 NP741869.RAlvZQ8AUGIn8nIONuXcn0Grocim6N-XVqXANUfJBwexI130_provenance.
- NP741869.RAlvZQ8AUGIn8nIONuXcn0Grocim6N-XVqXANUfJBwexI130_assertion wasDerivedFrom befree-2016 NP741869.RAlvZQ8AUGIn8nIONuXcn0Grocim6N-XVqXANUfJBwexI130_provenance.
- NP741869.RAlvZQ8AUGIn8nIONuXcn0Grocim6N-XVqXANUfJBwexI130_assertion SIO_000772 19479962 NP741869.RAlvZQ8AUGIn8nIONuXcn0Grocim6N-XVqXANUfJBwexI130_provenance.
- NP741869.RAlvZQ8AUGIn8nIONuXcn0Grocim6N-XVqXANUfJBwexI130_assertion evidence source_evidence_literature NP741869.RAlvZQ8AUGIn8nIONuXcn0Grocim6N-XVqXANUfJBwexI130_provenance.
- NP741869.RAlvZQ8AUGIn8nIONuXcn0Grocim6N-XVqXANUfJBwexI130_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." NP741869.RAlvZQ8AUGIn8nIONuXcn0Grocim6N-XVqXANUfJBwexI130_provenance.