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August 28, 2002Blood

Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carryingPRF1 mutations

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Authors

RCRita ClementiUniversità degli Studi del Piemonte Orientale “Amedeo Avogadro”LELorenzo EmmiUniversity of FlorenceRMRita MaccarioPoliclinico San Matteo Fondazione

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Clementi et al. (2002) studied this question.

synapsesocial.com/papers/6a6f60aaf44fa9f079dccda6https://doi.org/10.1182/blood-2002-04-1030
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Six novel mutations in the <i>PRF1</i> gene in children with haemophagocytic lymphohistiocytosis2001 · 79 citations
  2. 2Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan2002 · 77 citations
  3. 3Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression2002 · 74 citations
  4. 4Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis1999 · 1,247 citations