http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw#head http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw#assertion http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw#provenance http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw#assertion http://rdf.disgenet.org/resource/gda/DGN6d4b6be50c89fa73cc78dc5e94e11b4b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7450 http://rdf.disgenet.org/resource/gda/DGN6d4b6be50c89fa73cc78dc5e94e11b4b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0019087 http://rdf.disgenet.org/resource/gda/DGN6d4b6be50c89fa73cc78dc5e94e11b4b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw#provenance http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw#assertion http://purl.org/dc/terms/description [This study characterizes a congenital hemorrhagic disorder caused by a platelet function defect with the following features: (1) severely impaired platelet aggregation and fibrinogen or von Willebrand factor (vWF) binding induced by adenosine diphosphate (ADP); (2) defective aggregation, release reaction, and fibrinogen or vWF binding induced by other agonists; (3) normal aggregation and release reaction induced by high concentrations of thrombin or collagen; (4) no further inhibition by ADP scavengers of aggregation, release reaction, and fibrinogen or vWF binding, comparable with those observed for normal platelets in the presence of ADP scavengers; (5) normal membrane glycoprotein (GP) composition and normal binding of the anti-GP IIb/IIIa monoclonal antibody 10E5; (6) no acceleration by ADP of binding of the anti-GP IIb/IIIa monoclonal antibody 7E3; (7) normal platelet-fibrin clot retraction if induced by thrombin or reptilase plus epinephrine, absent if induced by reptilase plus ADP; (8) no inhibition by ADP of the prostaglandin E1-induced increase in platelet cyclic adenosine monophosphate, but normal inhibition by epinephrine; (9) defective mobilization of cytoplasmic Ca2+ by ADP; (10) normal binding of 14C-ADP to fresh platelets, but defective binding of [2-3H]-ADP to formalin-fixed platelets.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/1333302 http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw http://purl.org/dc/terms/created 2017-10-17T13:17:17+02:00 http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1112747.RAaz7E7dGWF9PhKaOdGrNFzk20UeQ5Hvuf0bPB8NvmLAw http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0