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.

Guardat en:
Dades bibliogràfiques
Publicat a:Blood Adv
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: American Society of Hematology 2020
Matèries:
Stimulus Report
Accés en línia: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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