| http://purl.uniprot.org/citations/23579497 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23579497 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23579497 | http://www.w3.org/2000/01/rdf-schema#comment | "Isolated congenital asplenia (ICA) is characterized by the absence of a spleen at birth in individuals with no other developmental defects. The patients are prone to life-threatening bacterial infections. The unbiased analysis of exomes revealed heterozygous mutations in RPSA in 18 patients from eight kindreds, corresponding to more than half the patients and over one-third of the kindreds studied. The clinical penetrance in these kindreds is complete. Expression studies indicated that the mutations carried by the patients-a nonsense mutation, a frameshift duplication, and five different missense mutations-cause autosomal dominant ICA by haploinsufficiency. RPSA encodes ribosomal protein SA, a component of the small subunit of the ribosome. This discovery establishes an essential role for RPSA in human spleen development."xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.org/dc/terms/identifier | "doi:10.1126/science.1234864"xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.org/dc/terms/identifier | "doi:10.1126/science.1234864"xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.uniprot.org/core/author | "Turner B."xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.uniprot.org/core/author | "Turner B."xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.uniprot.org/core/author | "Casanova J.L."xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.uniprot.org/core/author | "Casanova J.L."xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.uniprot.org/core/author | "Conley M.E."xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.uniprot.org/core/author | "Conley M.E."xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.uniprot.org/core/author | "Abel L."xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.uniprot.org/core/author | "Abel L."xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.uniprot.org/core/author | "Plebani A."xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.uniprot.org/core/author | "Plebani A."xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.uniprot.org/core/author | "Hammarstrom L."xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.uniprot.org/core/author | "Hammarstrom L."xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.uniprot.org/core/author | "Kini U."xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.uniprot.org/core/author | "Kini U."xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.uniprot.org/core/author | "Picard C."xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.uniprot.org/core/author | "Picard C."xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.uniprot.org/core/author | "Patin E."xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.uniprot.org/core/author | "Patin E."xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.uniprot.org/core/author | "Quintana-Murci L."xsd:string |
| http://purl.uniprot.org/citations/23579497 | http://purl.uniprot.org/core/author | "Quintana-Murci L."xsd:string |