| http://purl.uniprot.org/citations/15712268 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15712268 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15712268 | http://www.w3.org/2000/01/rdf-schema#comment | "We report two novel mutations, c.230T>C (p.F77S) and c.64_69del (p.V22_D23del) within the HSR domain of the AIRE protein in two patients of Italian descent affected by APECED. Both mutations were found in the compound heterozygous state respectively with c.994+5G>T and c.232T>A (p.W78R). With the two-hybrid assay in the yeast system we found that constructs containing the two mutations fail to interact with the wild-type protein. These findings indicate that both mutations negatively affected the homodimerization properties of the AIRE protein, thereby leading to a defective function."xsd:string |
| http://purl.uniprot.org/citations/15712268 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.9309"xsd:string |
| http://purl.uniprot.org/citations/15712268 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.9309"xsd:string |
| http://purl.uniprot.org/citations/15712268 | http://purl.uniprot.org/core/author | "Cao A."xsd:string |
| http://purl.uniprot.org/citations/15712268 | http://purl.uniprot.org/core/author | "Cao A."xsd:string |
| http://purl.uniprot.org/citations/15712268 | http://purl.uniprot.org/core/author | "Corda D."xsd:string |
| http://purl.uniprot.org/citations/15712268 | http://purl.uniprot.org/core/author | "Corda D."xsd:string |
| http://purl.uniprot.org/citations/15712268 | http://purl.uniprot.org/core/author | "Fiorillo E."xsd:string |
| http://purl.uniprot.org/citations/15712268 | http://purl.uniprot.org/core/author | "Fiorillo E."xsd:string |
| http://purl.uniprot.org/citations/15712268 | http://purl.uniprot.org/core/author | "Meloni A."xsd:string |
| http://purl.uniprot.org/citations/15712268 | http://purl.uniprot.org/core/author | "Meloni A."xsd:string |
| http://purl.uniprot.org/citations/15712268 | http://purl.uniprot.org/core/author | "Perniola R."xsd:string |
| http://purl.uniprot.org/citations/15712268 | http://purl.uniprot.org/core/author | "Perniola R."xsd:string |
| http://purl.uniprot.org/citations/15712268 | http://purl.uniprot.org/core/author | "Rosatelli M.C."xsd:string |
| http://purl.uniprot.org/citations/15712268 | http://purl.uniprot.org/core/author | "Rosatelli M.C."xsd:string |
| http://purl.uniprot.org/citations/15712268 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/15712268 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/15712268 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/15712268 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/15712268 | http://purl.uniprot.org/core/pages | "319"xsd:string |
| http://purl.uniprot.org/citations/15712268 | http://purl.uniprot.org/core/pages | "319"xsd:string |
| http://purl.uniprot.org/citations/15712268 | http://purl.uniprot.org/core/title | "Two novel mutations of the AIRE protein affecting its homodimerization properties."xsd:string |
| http://purl.uniprot.org/citations/15712268 | http://purl.uniprot.org/core/title | "Two novel mutations of the AIRE protein affecting its homodimerization properties."xsd:string |