Source:http://linkedlifedata.com/resource/lhgdn/association:45220
Subject | Predicate | Object | Context |
---|---|---|---|
lhgdn:association:45220 | lhgdn:found_in | pubmed-article:17013908 | lld:lhgdn |
lhgdn:association:45220 | lhgdn:geneRifSource | In a Chinese woman who had diabetes mellitus, undetectable ceruloplasmin, hand tremor, neck dystonia, and cognitive disturbances, genetic analyses revealed a novel homozygous mutation (848G > C or W283S) in exon 5 in the ceruloplasmin gene. | lld:lhgdn |
lhgdn:association:45220 | lhgdn:mesh_code | D014202 | lld:lhgdn |
lhgdn:association:45220 | lhgdn:associationIdType | http://http://linkedlifedat... | lld:lhgdn |
lhgdn:association:45220 | lhgdn:umls_code | umls-concept:C0235083 | lld:mappings |
entrez-gene:1356 | lhgdn:associationId | lhgdn:association:45220 | lld:lhgdn |