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Novel Munc13–4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis
Familial haemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous disorder characterised by constitutive defects in cellular cytotoxicity resulting in fever, hepatosplenomegaly and cytopenia, and the outcome is fatal unless treated by chemoimmunotherapy followed by haematopoietic ste...
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| Main Authors: | , , , , , , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2006
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2563207/ https://ncbi.nlm.nih.gov/pubmed/16825436 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.041863 |
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