| http://purl.uniprot.org/citations/8071963 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8071963 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8071963 | http://www.w3.org/2000/01/rdf-schema#comment | "A patient with Marfan syndrome was shown to be heterozygous for a G to A transition at nucleotide 3952 of the FBNI gene. This would result in a cysteine to tyrosine substitution at amino acid 1223 in the fibrillin protein."xsd:string |
| http://purl.uniprot.org/citations/8071963 | http://purl.org/dc/terms/identifier | "doi:10.1136/jmg.31.4.338"xsd:string |
| http://purl.uniprot.org/citations/8071963 | http://purl.org/dc/terms/identifier | "doi:10.1136/jmg.31.4.338"xsd:string |
| http://purl.uniprot.org/citations/8071963 | http://purl.uniprot.org/core/author | "Child A."xsd:string |
| http://purl.uniprot.org/citations/8071963 | http://purl.uniprot.org/core/author | "Child A."xsd:string |
| http://purl.uniprot.org/citations/8071963 | http://purl.uniprot.org/core/author | "Hewett D.R."xsd:string |
| http://purl.uniprot.org/citations/8071963 | http://purl.uniprot.org/core/author | "Hewett D.R."xsd:string |
| http://purl.uniprot.org/citations/8071963 | http://purl.uniprot.org/core/author | "Lynch J.R."xsd:string |
| http://purl.uniprot.org/citations/8071963 | http://purl.uniprot.org/core/author | "Lynch J.R."xsd:string |
| http://purl.uniprot.org/citations/8071963 | http://purl.uniprot.org/core/author | "Sykes B.C."xsd:string |
| http://purl.uniprot.org/citations/8071963 | http://purl.uniprot.org/core/author | "Sykes B.C."xsd:string |
| http://purl.uniprot.org/citations/8071963 | http://purl.uniprot.org/core/date | "1994"xsd:gYear |
| http://purl.uniprot.org/citations/8071963 | http://purl.uniprot.org/core/date | "1994"xsd:gYear |
| http://purl.uniprot.org/citations/8071963 | http://purl.uniprot.org/core/name | "J. Med. Genet."xsd:string |
| http://purl.uniprot.org/citations/8071963 | http://purl.uniprot.org/core/name | "J. Med. Genet."xsd:string |
| http://purl.uniprot.org/citations/8071963 | http://purl.uniprot.org/core/pages | "338-339"xsd:string |
| http://purl.uniprot.org/citations/8071963 | http://purl.uniprot.org/core/pages | "338-339"xsd:string |
| http://purl.uniprot.org/citations/8071963 | http://purl.uniprot.org/core/title | "A new missense mutation of fibrillin in a patient with Marfan syndrome."xsd:string |
| http://purl.uniprot.org/citations/8071963 | http://purl.uniprot.org/core/title | "A new missense mutation of fibrillin in a patient with Marfan syndrome."xsd:string |
| http://purl.uniprot.org/citations/8071963 | http://purl.uniprot.org/core/volume | "31"xsd:string |
| http://purl.uniprot.org/citations/8071963 | http://purl.uniprot.org/core/volume | "31"xsd:string |
| http://purl.uniprot.org/citations/8071963 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/8071963 |
| http://purl.uniprot.org/citations/8071963 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/8071963 |