dc.contributor.author | Gurgey, A | |
dc.contributor.author | Henter, JI | |
dc.contributor.author | Ozkan, A | |
dc.contributor.author | Fadeel, B | |
dc.contributor.author | Nordenskjold, M | |
dc.contributor.author | Rudd, E | |
dc.contributor.author | Ericson, KG | |
dc.contributor.author | Zheng, C | |
dc.contributor.author | Uysal, Z | |
dc.date.accessioned | 2021-03-03T15:02:41Z | |
dc.date.available | 2021-03-03T15:02:41Z | |
dc.date.issued | 2006 | |
dc.identifier.citation | Rudd E., Ericson K., Zheng C., Uysal Z., Ozkan A., Gurgey A., Fadeel B., Nordenskjold M., Henter J., "Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies", JOURNAL OF MEDICAL GENETICS, cilt.43, sa.4, 2006 | |
dc.identifier.issn | 0022-2593 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_3ce43f29-a6e1-47e2-bc63-06fe5dfcd2eb | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/44844 | |
dc.identifier.uri | https://doi.org/10.1136/jmg.2005.035253 | |
dc.description.abstract | Objective: To determine the frequency and spectrum of mutations in the gene encoding syntaxin 11 (STX11) in familial haemophagocytic lymphohistiocytosis (FHL), a rare autosomal recessive disorder of immune dysregulation characterised by a defect in natural killer cell function. | |
dc.language.iso | eng | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.subject | Tıbbi Genetik | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Tıp | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | GENETİK VE HAYAT | |
dc.title | Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies | |
dc.type | Makale | |
dc.relation.journal | JOURNAL OF MEDICAL GENETICS | |
dc.contributor.department | , , | |
dc.identifier.volume | 43 | |
dc.identifier.issue | 4 | |
dc.contributor.firstauthorID | 178445 | |