| http://purl.uniprot.org/citations/24084572 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24084572 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24084572 | http://www.w3.org/2000/01/rdf-schema#comment | "Fibulin-1 is an extracellular matrix protein that has an important role in the structure of elastic fibers and basement membranes of various tissues. Using homozygosity mapping and exome sequencing, we discovered a missense mutation, p.(Cys397Phe), in fibulin-1 in three patients from a consanguineous family presented with a novel syndrome of syndactyly, undescended testes, delayed motor milestones, mental retardation and signs of brain atrophy. The mutation discovered segregated with the phenotype and was not found in 374 population-matched alleles. The affected cysteine is highly conserved across vertebrates and its mutation is predicted to abolish a disulfide bond that defines the tertiary structure of fibulin-1. Our findings emphasize the crucial role fibulin-1 has in development of the central nervous system and various connective tissues."xsd:string |
| http://purl.uniprot.org/citations/24084572 | http://purl.org/dc/terms/identifier | "doi:10.1038/ejhg.2013.210"xsd:string |
| http://purl.uniprot.org/citations/24084572 | http://purl.org/dc/terms/identifier | "doi:10.1038/ejhg.2013.210"xsd:string |
| http://purl.uniprot.org/citations/24084572 | http://purl.uniprot.org/core/author | "Bohlega S."xsd:string |
| http://purl.uniprot.org/citations/24084572 | http://purl.uniprot.org/core/author | "Bohlega S."xsd:string |
| http://purl.uniprot.org/citations/24084572 | http://purl.uniprot.org/core/author | "Al-Saif A."xsd:string |
| http://purl.uniprot.org/citations/24084572 | http://purl.uniprot.org/core/author | "Al-Saif A."xsd:string |
| http://purl.uniprot.org/citations/24084572 | http://purl.uniprot.org/core/author | "Al-Ajlan H."xsd:string |
| http://purl.uniprot.org/citations/24084572 | http://purl.uniprot.org/core/author | "Al-Ajlan H."xsd:string |
| http://purl.uniprot.org/citations/24084572 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/24084572 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/24084572 | http://purl.uniprot.org/core/name | "Eur. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/24084572 | http://purl.uniprot.org/core/name | "Eur. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/24084572 | http://purl.uniprot.org/core/pages | "640-643"xsd:string |
| http://purl.uniprot.org/citations/24084572 | http://purl.uniprot.org/core/pages | "640-643"xsd:string |
| http://purl.uniprot.org/citations/24084572 | http://purl.uniprot.org/core/title | "Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues."xsd:string |
| http://purl.uniprot.org/citations/24084572 | http://purl.uniprot.org/core/title | "Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues."xsd:string |
| http://purl.uniprot.org/citations/24084572 | http://purl.uniprot.org/core/volume | "22"xsd:string |
| http://purl.uniprot.org/citations/24084572 | http://purl.uniprot.org/core/volume | "22"xsd:string |
| http://purl.uniprot.org/citations/24084572 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/24084572 |
| http://purl.uniprot.org/citations/24084572 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/24084572 |
| http://purl.uniprot.org/citations/24084572 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/24084572 |
| http://purl.uniprot.org/citations/24084572 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/24084572 |