Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP463970.RAjRW4WCkxWZGB4UwNJCmJiINd3mDTHB2rXygygTBVdFg130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP463970.RAjRW4WCkxWZGB4UwNJCmJiINd3mDTHB2rXygygTBVdFg130_assertion type Assertion NP463970.RAjRW4WCkxWZGB4UwNJCmJiINd3mDTHB2rXygygTBVdFg130_head.
- NP463970.RAjRW4WCkxWZGB4UwNJCmJiINd3mDTHB2rXygygTBVdFg130_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." NP463970.RAjRW4WCkxWZGB4UwNJCmJiINd3mDTHB2rXygygTBVdFg130_provenance.
- NP463970.RAjRW4WCkxWZGB4UwNJCmJiINd3mDTHB2rXygygTBVdFg130_assertion evidence source_evidence_literature NP463970.RAjRW4WCkxWZGB4UwNJCmJiINd3mDTHB2rXygygTBVdFg130_provenance.
- NP463970.RAjRW4WCkxWZGB4UwNJCmJiINd3mDTHB2rXygygTBVdFg130_assertion SIO_000772 9205791 NP463970.RAjRW4WCkxWZGB4UwNJCmJiINd3mDTHB2rXygygTBVdFg130_provenance.
- NP463970.RAjRW4WCkxWZGB4UwNJCmJiINd3mDTHB2rXygygTBVdFg130_assertion wasDerivedFrom befree-20150227 NP463970.RAjRW4WCkxWZGB4UwNJCmJiINd3mDTHB2rXygygTBVdFg130_provenance.
- NP463970.RAjRW4WCkxWZGB4UwNJCmJiINd3mDTHB2rXygygTBVdFg130_assertion wasGeneratedBy ECO_0000203 NP463970.RAjRW4WCkxWZGB4UwNJCmJiINd3mDTHB2rXygygTBVdFg130_provenance.