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Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies

dc.contributor.authorGurgey, A
dc.contributor.authorHenter, JI
dc.contributor.authorOzkan, A
dc.contributor.authorFadeel, B
dc.contributor.authorNordenskjold, M
dc.contributor.authorRudd, E
dc.contributor.authorEricson, KG
dc.contributor.authorZheng, C
dc.contributor.authorUysal, Z
dc.date.accessioned2021-03-03T15:02:41Z
dc.date.available2021-03-03T15:02:41Z
dc.date.issued2006
dc.identifier.citationRudd 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.issn0022-2593
dc.identifier.othervv_1032021
dc.identifier.otherav_3ce43f29-a6e1-47e2-bc63-06fe5dfcd2eb
dc.identifier.urihttp://hdl.handle.net/20.500.12627/44844
dc.identifier.urihttps://doi.org/10.1136/jmg.2005.035253
dc.description.abstractObjective: 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.isoeng
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.titleSpectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies
dc.typeMakale
dc.relation.journalJOURNAL OF MEDICAL GENETICS
dc.contributor.department, ,
dc.identifier.volume43
dc.identifier.issue4
dc.contributor.firstauthorID178445


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