Identification of germline variants in adults with hemophagocytic lymphohistiocytosis

Some germline variants are predicted to disrupt protein function in HLH-associated genes. Such variants are neither enriched in adult-onset HLH nor associated with specific clinical or laboratory features of HLH.

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Detalhes bibliográficos
Publicado no:Blood Adv
Main Authors: Miller, Peter G., Niroula, Abhishek, Ceremsak, John J., Gibson, Christopher J., Taylor, Martin S., Birndt, Sebastian, Perner, Florian, Arnason, Jon, Sperling, Adam S., Agrawal, Mridul, Schram, Alison M., Nikiforow, Sarah, Pihan, German, Hasserjian, Robert P., Aster, Jon C., La Rosée, Paul, Morgan, Elizabeth A., Berliner, Nancy, Ebert, Benjamin L.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2020
Assuntos:
Stimulus Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7065469/
https://ncbi.nlm.nih.gov/pubmed/32150605
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2019001272
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