Source:http://linkedlifedata.com/resource/lhgdn/association:45220
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| 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.
|
| lhgdn:mesh_code |
D014202
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |