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


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Rudd E., Ericson K., Zheng C., Uysal Z., Ozkan A., Gurgey A., ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.43, 2006 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 43 Konu: 4
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1136/jmg.2005.035253
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS

Özet

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.