Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP935654.RA2lAZAQzhFbhuSEmOE0f2hn5J-8ZMeJB7zjs17NgsEdQ130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP935654.RA2lAZAQzhFbhuSEmOE0f2hn5J-8ZMeJB7zjs17NgsEdQ130_assertion type Assertion NP935654.RA2lAZAQzhFbhuSEmOE0f2hn5J-8ZMeJB7zjs17NgsEdQ130_head.
- NP935654.RA2lAZAQzhFbhuSEmOE0f2hn5J-8ZMeJB7zjs17NgsEdQ130_assertion description "[We found that mutations of GTP cyclohydrolase I, the rate-limiting enzyme in the biosynthesis of tetrahydrobiopterin, which is the cofactor of dopamine-synthesizing tyrosine hydroxylase, cause dominantly inherited hereditary progressive dystonia with marked diurnal fluctuation (HPD, Segawa's disease) probably owing to the decrease of dopamine in the basal ganglia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP935654.RA2lAZAQzhFbhuSEmOE0f2hn5J-8ZMeJB7zjs17NgsEdQ130_provenance.
- NP935654.RA2lAZAQzhFbhuSEmOE0f2hn5J-8ZMeJB7zjs17NgsEdQ130_assertion evidence source_evidence_literature NP935654.RA2lAZAQzhFbhuSEmOE0f2hn5J-8ZMeJB7zjs17NgsEdQ130_provenance.
- NP935654.RA2lAZAQzhFbhuSEmOE0f2hn5J-8ZMeJB7zjs17NgsEdQ130_assertion SIO_000772 9205791 NP935654.RA2lAZAQzhFbhuSEmOE0f2hn5J-8ZMeJB7zjs17NgsEdQ130_provenance.
- NP935654.RA2lAZAQzhFbhuSEmOE0f2hn5J-8ZMeJB7zjs17NgsEdQ130_assertion wasDerivedFrom befree-20150227 NP935654.RA2lAZAQzhFbhuSEmOE0f2hn5J-8ZMeJB7zjs17NgsEdQ130_provenance.
- NP935654.RA2lAZAQzhFbhuSEmOE0f2hn5J-8ZMeJB7zjs17NgsEdQ130_assertion wasGeneratedBy ECO_0000203 NP935654.RA2lAZAQzhFbhuSEmOE0f2hn5J-8ZMeJB7zjs17NgsEdQ130_provenance.