| http://purl.uniprot.org/citations/19479836 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19479836 | http://www.w3.org/2000/01/rdf-schema#comment | "Pediatric granulomatous arthritis (PGA) has been associated with 12 different substitutions in the NOD2 gene thus far. We report a case of PGA in a 6-year-old girl with the NOD2 E383K gene substitution. Genotype analysis of the patient's family members revealed that her affected paternal aunt, as well as her asymptomatic father and 3 younger siblings, were heterozygous for the E383K substitution. The patient's mother did not have a NOD2 mutation. This is the first report of a pedigree in which 4 asymptomatic members carry the E383K substitution in NOD2, as well as the first observation of an asymptomatic carrier state for any of the NOD2 "Blau mutations.""xsd:string |
| http://purl.uniprot.org/citations/19479836 | http://purl.org/dc/terms/identifier | "doi:10.1002/art.24532"xsd:string |
| http://purl.uniprot.org/citations/19479836 | http://purl.uniprot.org/core/author | "Saulsbury F.T."xsd:string |
| http://purl.uniprot.org/citations/19479836 | http://purl.uniprot.org/core/author | "Wouters C.H."xsd:string |
| http://purl.uniprot.org/citations/19479836 | http://purl.uniprot.org/core/author | "Martin T.M."xsd:string |
| http://purl.uniprot.org/citations/19479836 | http://purl.uniprot.org/core/author | "Doyle T.M."xsd:string |
| http://purl.uniprot.org/citations/19479836 | http://purl.uniprot.org/core/author | "Rose C.D."xsd:string |
| http://purl.uniprot.org/citations/19479836 | http://purl.uniprot.org/core/author | "Austin C.R."xsd:string |
| http://purl.uniprot.org/citations/19479836 | http://purl.uniprot.org/core/author | "Goodwin K.A."xsd:string |
| http://purl.uniprot.org/citations/19479836 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19479836 | http://purl.uniprot.org/core/name | "Arthritis Rheum"xsd:string |
| http://purl.uniprot.org/citations/19479836 | http://purl.uniprot.org/core/pages | "1804-1806"xsd:string |
| http://purl.uniprot.org/citations/19479836 | http://purl.uniprot.org/core/title | "Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree."xsd:string |
| http://purl.uniprot.org/citations/19479836 | http://purl.uniprot.org/core/volume | "60"xsd:string |
| http://purl.uniprot.org/citations/19479836 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/19479836 |
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