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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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Detalhes bibliográficos
Main Authors: Santoro, A, Cannella, S, Bossi, G, Gallo, F, Trizzino, A, Pende, D, Dieli, F, Bruno, G, Stinchcombe, J C, Micalizzi, C, De Fusco, C, Danesino, C, Moretta, L, Notarangelo, L D, Griffiths, G M, Aricò, M
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
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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