| http://purl.uniprot.org/citations/9805126 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9805126 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9805126 | http://www.w3.org/2000/01/rdf-schema#comment | "The original patient with the Weissenbacher-Zweymüller syndrome was analyzed for mutations in two candidate genes expressed in cartilage (COL2A1 and COL11A2). No mutations were found in the COL2A1 gene but the COL11A2 gene contained a single-base mutation that converted a codon for an obligate glycine to a codon for glutamate at position alpha 2-955 (G955E). The results here and those published previously indicate that the Weissenbacher-Zweymüller syndrome (heterozygous OSMED), nonocular Stickler syndrome, and homozygous OSMED are all caused by mutations in the COL11A2 gene."xsd:string |
| http://purl.uniprot.org/citations/9805126 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1096-8628(19981102)80:2<115::aid-ajmg5>3.0.co;2-o"xsd:string |
| http://purl.uniprot.org/citations/9805126 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1096-8628(19981102)80:2<115::aid-ajmg5>3.0.co;2-o"xsd:string |
| http://purl.uniprot.org/citations/9805126 | http://purl.uniprot.org/core/author | "Pihlajamaa T."xsd:string |
| http://purl.uniprot.org/citations/9805126 | http://purl.uniprot.org/core/author | "Pihlajamaa T."xsd:string |
| http://purl.uniprot.org/citations/9805126 | http://purl.uniprot.org/core/author | "Winterpacht A."xsd:string |
| http://purl.uniprot.org/citations/9805126 | http://purl.uniprot.org/core/author | "Winterpacht A."xsd:string |
| http://purl.uniprot.org/citations/9805126 | http://purl.uniprot.org/core/author | "Zabel B."xsd:string |
| http://purl.uniprot.org/citations/9805126 | http://purl.uniprot.org/core/author | "Zabel B."xsd:string |
| http://purl.uniprot.org/citations/9805126 | http://purl.uniprot.org/core/author | "Prockop D.J."xsd:string |
| http://purl.uniprot.org/citations/9805126 | http://purl.uniprot.org/core/author | "Prockop D.J."xsd:string |
| http://purl.uniprot.org/citations/9805126 | http://purl.uniprot.org/core/author | "Ala-Kokko L."xsd:string |
| http://purl.uniprot.org/citations/9805126 | http://purl.uniprot.org/core/author | "Ala-Kokko L."xsd:string |
| http://purl.uniprot.org/citations/9805126 | http://purl.uniprot.org/core/author | "Spranger J."xsd:string |
| http://purl.uniprot.org/citations/9805126 | http://purl.uniprot.org/core/author | "Spranger J."xsd:string |
| http://purl.uniprot.org/citations/9805126 | http://purl.uniprot.org/core/author | "Faber J."xsd:string |
| http://purl.uniprot.org/citations/9805126 | http://purl.uniprot.org/core/author | "Faber J."xsd:string |
| http://purl.uniprot.org/citations/9805126 | http://purl.uniprot.org/core/author | "Giedion A."xsd:string |
| http://purl.uniprot.org/citations/9805126 | http://purl.uniprot.org/core/author | "Giedion A."xsd:string |
| http://purl.uniprot.org/citations/9805126 | http://purl.uniprot.org/core/author | "Wiesbauer P."xsd:string |
| http://purl.uniprot.org/citations/9805126 | http://purl.uniprot.org/core/author | "Wiesbauer P."xsd:string |
| http://purl.uniprot.org/citations/9805126 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9805126 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |