| http://purl.uniprot.org/citations/7870075 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7870075 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7870075 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations of the fibrillin gene (FBN1) are known to cause classical Marfan's syndrome, ectopia lentis and neonatal Marfan's syndrome. We have identified a novel missense mutation in exon 28 of the FBN1 gene (R1170H) which is responsible for an atypical marfanoid phenotype characterised by dolichostenomelia and arachnodactyly."xsd:string |
| http://purl.uniprot.org/citations/7870075 | http://purl.org/dc/terms/identifier | "doi:10.1006/mcpr.1994.1045"xsd:string |
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| http://purl.uniprot.org/citations/7870075 | http://purl.uniprot.org/core/author | "Brock D.J.H."xsd:string |
| http://purl.uniprot.org/citations/7870075 | http://purl.uniprot.org/core/author | "Brock D.J.H."xsd:string |
| http://purl.uniprot.org/citations/7870075 | http://purl.uniprot.org/core/author | "Hayward C."xsd:string |
| http://purl.uniprot.org/citations/7870075 | http://purl.uniprot.org/core/author | "Hayward C."xsd:string |
| http://purl.uniprot.org/citations/7870075 | http://purl.uniprot.org/core/author | "Porteous M.E.M."xsd:string |
| http://purl.uniprot.org/citations/7870075 | http://purl.uniprot.org/core/author | "Porteous M.E.M."xsd:string |
| http://purl.uniprot.org/citations/7870075 | http://purl.uniprot.org/core/date | "1994"xsd:gYear |
| http://purl.uniprot.org/citations/7870075 | http://purl.uniprot.org/core/date | "1994"xsd:gYear |
| http://purl.uniprot.org/citations/7870075 | http://purl.uniprot.org/core/name | "Mol. Cell. Probes"xsd:string |
| http://purl.uniprot.org/citations/7870075 | http://purl.uniprot.org/core/name | "Mol. Cell. Probes"xsd:string |
| http://purl.uniprot.org/citations/7870075 | http://purl.uniprot.org/core/pages | "325-327"xsd:string |
| http://purl.uniprot.org/citations/7870075 | http://purl.uniprot.org/core/pages | "325-327"xsd:string |
| http://purl.uniprot.org/citations/7870075 | http://purl.uniprot.org/core/title | "A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly."xsd:string |
| http://purl.uniprot.org/citations/7870075 | http://purl.uniprot.org/core/title | "A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly."xsd:string |
| http://purl.uniprot.org/citations/7870075 | http://purl.uniprot.org/core/volume | "8"xsd:string |
| http://purl.uniprot.org/citations/7870075 | http://purl.uniprot.org/core/volume | "8"xsd:string |
| http://purl.uniprot.org/citations/7870075 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/7870075 |
| http://purl.uniprot.org/citations/7870075 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/7870075 |
| http://purl.uniprot.org/citations/7870075 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/7870075 |
| http://purl.uniprot.org/citations/7870075 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/7870075 |