| http://purl.uniprot.org/citations/15691365 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15691365 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15691365 | http://www.w3.org/2000/01/rdf-schema#comment | "The inherited osteolysis syndromes are a heterogeneous group of skeletal disorders whose classification is still uncertain. Three osteolysis syndromes show autosomal recessive inheritance and multicentric involvement: Torg syndrome (OMIM 259600), Winchester syndrome (OMIM 277950) and Nodulosis-Arthropathy-Osteolysis syndrome (NAO; OMIM 605156). The 2001 Nosology of the International Skeletal Dysplasia Society (Hall CM, Am J Med Genet 2002: 113: 65) classifies NAO as a variant of Torg syndrome, while Winchester syndrome is considered as a separate disorder. Recently, mutations in the matrix metalloproteinase 2 (MMP2) gene were identified in affected individuals with a clinical diagnosis of NAO in two Arab families. We report a homozygous missense mutation (E404K) in the active site of MMP2 in a 21-year-old woman with a severe form of osteolysis best compatible with a diagnosis of Winchester syndrome. The clinical and molecular findings suggest that Torg, NAO and Winchester syndromes are allelic disorders that form a clinical spectrum."xsd:string |
| http://purl.uniprot.org/citations/15691365 | http://purl.org/dc/terms/identifier | "doi:10.1111/j.1399-0004.2004.00402.x"xsd:string |
| http://purl.uniprot.org/citations/15691365 | http://purl.org/dc/terms/identifier | "doi:10.1111/j.1399-0004.2004.00402.x"xsd:string |
| http://purl.uniprot.org/citations/15691365 | http://purl.uniprot.org/core/author | "Superti-Furga A."xsd:string |
| http://purl.uniprot.org/citations/15691365 | http://purl.uniprot.org/core/author | "Superti-Furga A."xsd:string |
| http://purl.uniprot.org/citations/15691365 | http://purl.uniprot.org/core/author | "Bonafe L."xsd:string |
| http://purl.uniprot.org/citations/15691365 | http://purl.uniprot.org/core/author | "Bonafe L."xsd:string |
| http://purl.uniprot.org/citations/15691365 | http://purl.uniprot.org/core/author | "Di Rocco M."xsd:string |
| http://purl.uniprot.org/citations/15691365 | http://purl.uniprot.org/core/author | "Di Rocco M."xsd:string |
| http://purl.uniprot.org/citations/15691365 | http://purl.uniprot.org/core/author | "Zankl A."xsd:string |
| http://purl.uniprot.org/citations/15691365 | http://purl.uniprot.org/core/author | "Zankl A."xsd:string |
| http://purl.uniprot.org/citations/15691365 | http://purl.uniprot.org/core/author | "Calcaterra V."xsd:string |
| http://purl.uniprot.org/citations/15691365 | http://purl.uniprot.org/core/author | "Calcaterra V."xsd:string |
| http://purl.uniprot.org/citations/15691365 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/15691365 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/15691365 | http://purl.uniprot.org/core/name | "Clin. Genet."xsd:string |
| http://purl.uniprot.org/citations/15691365 | http://purl.uniprot.org/core/name | "Clin. Genet."xsd:string |
| http://purl.uniprot.org/citations/15691365 | http://purl.uniprot.org/core/pages | "261-266"xsd:string |
| http://purl.uniprot.org/citations/15691365 | http://purl.uniprot.org/core/pages | "261-266"xsd:string |
| http://purl.uniprot.org/citations/15691365 | http://purl.uniprot.org/core/title | "Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2."xsd:string |
| http://purl.uniprot.org/citations/15691365 | http://purl.uniprot.org/core/title | "Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2."xsd:string |
| http://purl.uniprot.org/citations/15691365 | http://purl.uniprot.org/core/volume | "67"xsd:string |
| http://purl.uniprot.org/citations/15691365 | http://purl.uniprot.org/core/volume | "67"xsd:string |