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, ss.130, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 7
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1186/s13073-015-0244-1
  • Dergi Adı: Genome medicine
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.130
  • Gazi Üniversitesi Adresli: Evet

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.