| http://purl.uniprot.org/citations/23962630 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23962630 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23962630 | http://www.w3.org/2000/01/rdf-schema#comment | "The authors report a 44-year-old man with a history of attention deficit and hyperactivity disorder, obsessive compulsive behaviour, vocal tics, depression, and anxiety, in whom a compound heterozygous ATP7B mutation was found, associated with hypoceruloplasminemia, but without clinical or pathological manifestation of Wilson's disease (WD). Genetic testing revealed a compound heterozygous ATP7B mutation already described in WD, p.Met645Arg (C1934TG/c.51+4A→T). Hypoceruloplasminaemia was detected but no clinical manifestations (hepatic or central nervous system) of WD were present. The authors conclude that patients can carry a heterozygous mutation of the ATP7B gene that is associated with hypoceruloplasminaemia and display no overt clinical hepatic and/or central nervous system manifestations of WD."xsd:string |
| http://purl.uniprot.org/citations/23962630 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.jocn.2013.02.030"xsd:string |
| http://purl.uniprot.org/citations/23962630 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.jocn.2013.02.030"xsd:string |
| http://purl.uniprot.org/citations/23962630 | http://purl.uniprot.org/core/author | "Barbosa E.R."xsd:string |
| http://purl.uniprot.org/citations/23962630 | http://purl.uniprot.org/core/author | "Barbosa E.R."xsd:string |
| http://purl.uniprot.org/citations/23962630 | http://purl.uniprot.org/core/author | "Arruda W.O."xsd:string |
| http://purl.uniprot.org/citations/23962630 | http://purl.uniprot.org/core/author | "Arruda W.O."xsd:string |
| http://purl.uniprot.org/citations/23962630 | http://purl.uniprot.org/core/author | "Deguti M.M."xsd:string |
| http://purl.uniprot.org/citations/23962630 | http://purl.uniprot.org/core/author | "Deguti M.M."xsd:string |
| http://purl.uniprot.org/citations/23962630 | http://purl.uniprot.org/core/author | "Munhoz R.P."xsd:string |
| http://purl.uniprot.org/citations/23962630 | http://purl.uniprot.org/core/author | "Munhoz R.P."xsd:string |
| http://purl.uniprot.org/citations/23962630 | http://purl.uniprot.org/core/author | "Teive H.A."xsd:string |
| http://purl.uniprot.org/citations/23962630 | http://purl.uniprot.org/core/author | "Teive H.A."xsd:string |
| http://purl.uniprot.org/citations/23962630 | http://purl.uniprot.org/core/author | "Zavala J.A."xsd:string |
| http://purl.uniprot.org/citations/23962630 | http://purl.uniprot.org/core/author | "Zavala J.A."xsd:string |
| http://purl.uniprot.org/citations/23962630 | http://purl.uniprot.org/core/author | "de Bem R.S."xsd:string |
| http://purl.uniprot.org/citations/23962630 | http://purl.uniprot.org/core/author | "de Bem R.S."xsd:string |
| http://purl.uniprot.org/citations/23962630 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/23962630 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/23962630 | http://purl.uniprot.org/core/name | "J. Clin. Neurosci."xsd:string |
| http://purl.uniprot.org/citations/23962630 | http://purl.uniprot.org/core/name | "J. Clin. Neurosci."xsd:string |
| http://purl.uniprot.org/citations/23962630 | http://purl.uniprot.org/core/pages | "335-336"xsd:string |
| http://purl.uniprot.org/citations/23962630 | http://purl.uniprot.org/core/pages | "335-336"xsd:string |