| pubmed-article:9805126 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9805126 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:9805126 | lifeskim:mentions | umls-concept:C0019425 | lld:lifeskim |
| pubmed-article:9805126 | lifeskim:mentions | umls-concept:C0017890 | lld:lifeskim |
| pubmed-article:9805126 | lifeskim:mentions | umls-concept:C0432210 | lld:lifeskim |
| pubmed-article:9805126 | lifeskim:mentions | umls-concept:C0039082 | lld:lifeskim |
| pubmed-article:9805126 | lifeskim:mentions | umls-concept:C0265253 | lld:lifeskim |
| pubmed-article:9805126 | lifeskim:mentions | umls-concept:C1413571 | lld:lifeskim |
| pubmed-article:9805126 | lifeskim:mentions | umls-concept:C2003939 | lld:lifeskim |
| pubmed-article:9805126 | lifeskim:mentions | umls-concept:C1706204 | lld:lifeskim |
| pubmed-article:9805126 | lifeskim:mentions | umls-concept:C0205313 | lld:lifeskim |
| pubmed-article:9805126 | lifeskim:mentions | umls-concept:C1555721 | lld:lifeskim |
| pubmed-article:9805126 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:9805126 | pubmed:dateCreated | 1999-1-7 | lld:pubmed |
| pubmed-article:9805126 | pubmed:abstractText | 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. | lld:pubmed |
| pubmed-article:9805126 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9805126 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9805126 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9805126 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:9805126 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9805126 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9805126 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9805126 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9805126 | pubmed:month | Nov | lld:pubmed |
| pubmed-article:9805126 | pubmed:issn | 0148-7299 | lld:pubmed |
| pubmed-article:9805126 | pubmed:author | pubmed-author:SprangerJJ | lld:pubmed |
| pubmed-article:9805126 | pubmed:author | pubmed-author:ProckopD JDJ | lld:pubmed |
| pubmed-article:9805126 | pubmed:author | pubmed-author:FaberJJ | lld:pubmed |
| pubmed-article:9805126 | pubmed:author | pubmed-author:GiedionAA | lld:pubmed |
| pubmed-article:9805126 | pubmed:author | pubmed-author:ZabelBB | lld:pubmed |
| pubmed-article:9805126 | pubmed:author | pubmed-author:Ala-KokkoLL | lld:pubmed |
| pubmed-article:9805126 | pubmed:author | pubmed-author:WiesbauerPP | lld:pubmed |
| pubmed-article:9805126 | pubmed:author | pubmed-author:WinterpachtAA | lld:pubmed |
| pubmed-article:9805126 | pubmed:author | pubmed-author:PihlajamaaTT | lld:pubmed |
| pubmed-article:9805126 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9805126 | pubmed:day | 2 | lld:pubmed |
| pubmed-article:9805126 | pubmed:volume | 80 | lld:pubmed |
| pubmed-article:9805126 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9805126 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9805126 | pubmed:pagination | 115-20 | lld:pubmed |
| pubmed-article:9805126 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
| pubmed-article:9805126 | pubmed:meshHeading | pubmed-meshheading:9805126-... | lld:pubmed |
| pubmed-article:9805126 | pubmed:meshHeading | pubmed-meshheading:9805126-... | lld:pubmed |
| pubmed-article:9805126 | pubmed:meshHeading | pubmed-meshheading:9805126-... | lld:pubmed |
| pubmed-article:9805126 | pubmed:meshHeading | pubmed-meshheading:9805126-... | lld:pubmed |
| pubmed-article:9805126 | pubmed:meshHeading | pubmed-meshheading:9805126-... | lld:pubmed |
| pubmed-article:9805126 | pubmed:meshHeading | pubmed-meshheading:9805126-... | lld:pubmed |
| pubmed-article:9805126 | pubmed:meshHeading | pubmed-meshheading:9805126-... | lld:pubmed |
| pubmed-article:9805126 | pubmed:meshHeading | pubmed-meshheading:9805126-... | lld:pubmed |
| pubmed-article:9805126 | pubmed:meshHeading | pubmed-meshheading:9805126-... | lld:pubmed |
| pubmed-article:9805126 | pubmed:year | 1998 | lld:pubmed |
| pubmed-article:9805126 | pubmed:articleTitle | Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). | lld:pubmed |
| pubmed-article:9805126 | pubmed:affiliation | Collagen Research Unit, University of Oulu, Finland. | lld:pubmed |
| pubmed-article:9805126 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9805126 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:9805126 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:1302 | entrezgene:pubmed | pubmed-article:9805126 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9805126 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9805126 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9805126 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9805126 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9805126 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9805126 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9805126 | lld:pubmed |
