Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP763358.RAuS55N0gWkpXV420gAzxoDqPeZw1tPmqzd2HYqt1ch0w130_assertion> ?p ?o ?g. }
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- NP763358.RAuS55N0gWkpXV420gAzxoDqPeZw1tPmqzd2HYqt1ch0w130_assertion type Assertion NP763358.RAuS55N0gWkpXV420gAzxoDqPeZw1tPmqzd2HYqt1ch0w130_head.
- NP763358.RAuS55N0gWkpXV420gAzxoDqPeZw1tPmqzd2HYqt1ch0w130_assertion description "[Sanfilippo A syndrome (mucopolysaccharidosis type IIIA, MPS-IIIA) is an autosomal recessive neurodegenerative disorder due to an enzymatic defect of the lysosomal enzyme sulphamidase (EC 3.10.1.1) required for the degradation of heparan sulphate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP763358.RAuS55N0gWkpXV420gAzxoDqPeZw1tPmqzd2HYqt1ch0w130_provenance.
- NP763358.RAuS55N0gWkpXV420gAzxoDqPeZw1tPmqzd2HYqt1ch0w130_assertion evidence source_evidence_literature NP763358.RAuS55N0gWkpXV420gAzxoDqPeZw1tPmqzd2HYqt1ch0w130_provenance.
- NP763358.RAuS55N0gWkpXV420gAzxoDqPeZw1tPmqzd2HYqt1ch0w130_assertion SIO_000772 9158154 NP763358.RAuS55N0gWkpXV420gAzxoDqPeZw1tPmqzd2HYqt1ch0w130_provenance.
- NP763358.RAuS55N0gWkpXV420gAzxoDqPeZw1tPmqzd2HYqt1ch0w130_assertion wasDerivedFrom befree-20140225 NP763358.RAuS55N0gWkpXV420gAzxoDqPeZw1tPmqzd2HYqt1ch0w130_provenance.
- NP763358.RAuS55N0gWkpXV420gAzxoDqPeZw1tPmqzd2HYqt1ch0w130_assertion wasGeneratedBy ECO_0000203 NP763358.RAuS55N0gWkpXV420gAzxoDqPeZw1tPmqzd2HYqt1ch0w130_provenance.