Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

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Atıf İçin Kopyala

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)

• Cilt numarası: 7
• Basım Tarihi: 2015
• Doi Numarası: 10.1186/s13073-015-0244-1
• Dergi Adı: GENOME MEDICINE

Özet

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.