A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2
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DOI: 10.1080/08880018.2020.1793849
Abstract: F. Saettini, I. Castelli, M. Provenzi, G. Fazio, M. Quadri, G. Cazzaniga, S. Sala, F. Dell’Acqua, E. Sieni, M. L. Coniglio, L. Pezzoli, M. Iascone, F. Vendemini, A. C. Balduzzi, A. Biondi, C. Rizzari ,… read more here.
Keywords: novel homozygous; hematology; monza italy; homozygous disruptive ... See more keywords