| http://purl.uniprot.org/citations/7540117 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7540117 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7540117 | http://www.w3.org/2000/01/rdf-schema#comment | "Five unrelated children are described with a rare autoimmune lymphoproliferative syndrome (ALPS) characterized by massive nonmalignant lymphadenopathy, autoimmune phenomena, and expanded populations of TCR-CD3+CD4-CD8-lymphocytes. These findings, suggesting a genetic defect in the ability of T lymphocytes to respond to normal immunoregulatory mechanisms, prompted an evaluation of lymphocyte apoptosis. Each child had defective Fas-mediated T lymphocyte apoptosis associated with a unique, deleterious Fas gene mutation. One mutation appeared to cause a simple loss of function; however, four others had a dominant negative phenotype when coexpressed with normal Fas. Family studies demonstrated the inheritance of the mutant Fas alleles. The occurrence of Fas mutations together with abnormal T cell apoptosis in ALPS patients suggests an involvement of Fas in this recently recognized disorder of lymphocyte homeostasis and peripheral self-tolerance."xsd:string |
| http://purl.uniprot.org/citations/7540117 | http://purl.org/dc/terms/identifier | "doi:10.1016/0092-8674(95)90013-6"xsd:string |
| http://purl.uniprot.org/citations/7540117 | http://purl.org/dc/terms/identifier | "doi:10.1016/0092-8674(95)90013-6"xsd:string |
| http://purl.uniprot.org/citations/7540117 | http://purl.uniprot.org/core/author | "Lenardo M.J."xsd:string |
| http://purl.uniprot.org/citations/7540117 | http://purl.uniprot.org/core/author | "Lenardo M.J."xsd:string |
| http://purl.uniprot.org/citations/7540117 | http://purl.uniprot.org/core/author | "Straus S.E."xsd:string |
| http://purl.uniprot.org/citations/7540117 | http://purl.uniprot.org/core/author | "Straus S.E."xsd:string |
| http://purl.uniprot.org/citations/7540117 | http://purl.uniprot.org/core/author | "Lin A.Y."xsd:string |
| http://purl.uniprot.org/citations/7540117 | http://purl.uniprot.org/core/author | "Lin A.Y."xsd:string |
| http://purl.uniprot.org/citations/7540117 | http://purl.uniprot.org/core/author | "Strober W."xsd:string |
| http://purl.uniprot.org/citations/7540117 | http://purl.uniprot.org/core/author | "Strober W."xsd:string |
| http://purl.uniprot.org/citations/7540117 | http://purl.uniprot.org/core/author | "Puck J.M."xsd:string |
| http://purl.uniprot.org/citations/7540117 | http://purl.uniprot.org/core/author | "Puck J.M."xsd:string |
| http://purl.uniprot.org/citations/7540117 | http://purl.uniprot.org/core/author | "Dale J.K."xsd:string |
| http://purl.uniprot.org/citations/7540117 | http://purl.uniprot.org/core/author | "Dale J.K."xsd:string |
| http://purl.uniprot.org/citations/7540117 | http://purl.uniprot.org/core/author | "Fisher G.H."xsd:string |
| http://purl.uniprot.org/citations/7540117 | http://purl.uniprot.org/core/author | "Fisher G.H."xsd:string |
| http://purl.uniprot.org/citations/7540117 | http://purl.uniprot.org/core/author | "Middleton L.A."xsd:string |
| http://purl.uniprot.org/citations/7540117 | http://purl.uniprot.org/core/author | "Middleton L.A."xsd:string |
| http://purl.uniprot.org/citations/7540117 | http://purl.uniprot.org/core/author | "Rosenberg F.J."xsd:string |
| http://purl.uniprot.org/citations/7540117 | http://purl.uniprot.org/core/author | "Rosenberg F.J."xsd:string |
| http://purl.uniprot.org/citations/7540117 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7540117 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |