| http://purl.uniprot.org/citations/19420366 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19420366 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19420366 | http://www.w3.org/2000/01/rdf-schema#comment | "A mutation in ORAI1, the gene encoding the pore-forming subunit of the Ca(2+)-release-activated Ca(2+) (CRAC) channel, abrogates the store-operated entry of Ca(2+) into cells and impairs lymphocyte activation. Stromal interaction molecule 1 (STIM1) in the endoplasmic reticulum activates ORAI1-CRAC channels. We report on three siblings from one kindred with a clinical syndrome of immunodeficiency, hepatosplenomegaly, autoimmune hemolytic anemia, thrombocytopenia, muscular hypotonia, and defective enamel dentition. Two of these patients have a homozygous nonsense mutation in STIM1 that abrogates expression of STIM1 and Ca(2+) influx."xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.org/dc/terms/identifier | "doi:10.1056/nejmoa0900082"xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.org/dc/terms/identifier | "doi:10.1056/nejmoa0900082"xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.uniprot.org/core/author | "Fischer A."xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.uniprot.org/core/author | "Fischer A."xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.uniprot.org/core/author | "Rechavi G."xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.uniprot.org/core/author | "Rechavi G."xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.uniprot.org/core/author | "Rao A."xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.uniprot.org/core/author | "Rao A."xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.uniprot.org/core/author | "Picard C."xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.uniprot.org/core/author | "Picard C."xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.uniprot.org/core/author | "Khalil S."xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.uniprot.org/core/author | "Khalil S."xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.uniprot.org/core/author | "Rieux-Laucat F."xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.uniprot.org/core/author | "Rieux-Laucat F."xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.uniprot.org/core/author | "Hivroz C."xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.uniprot.org/core/author | "Hivroz C."xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.uniprot.org/core/author | "Feske S."xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.uniprot.org/core/author | "Feske S."xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.uniprot.org/core/author | "Luthy K."xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.uniprot.org/core/author | "Luthy K."xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.uniprot.org/core/author | "LeDeist F."xsd:string |
| http://purl.uniprot.org/citations/19420366 | http://purl.uniprot.org/core/author | "LeDeist F."xsd:string |