Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

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Tesi B., Lagerstedt-Robinson K., Chiang S. C. C. , Ben Bdira E., Abboud M., Belen B., ...Daha Fazla

GENOME MEDICINE, cilt.7, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier


Background: Hemophagocytic lymphohistiocytosis (HLH) is a rapid-onset, potentially fatal hyperinflammatory syndrome. A prompt molecular diagnosis is crucial for appropriate clinical management. Here, we validated and prospectively evaluated a targeted high-throughput sequencing approach for HLH diagnostics.