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

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. METHODS: Mutational a...

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Detalhes bibliográficos
Main Authors: Rudd, E, Ericson, K Göransdotter, Zheng, C, Uysal, Z, Özkan, A, Gürgey, A, Fadeel, B, Nordenskjöld, M, Henter, J‐I
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
Assuntos:
Electronic Letter
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563216/
https://ncbi.nlm.nih.gov/pubmed/16582076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.035253
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