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Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis
Tesi, Bianca; Lagerstedt-Robinson, Kristina; Chiang, Samuel Cern Cher; Bdira, Eya Ben; Abboud, Miguel Raul; Belen, Burcu; Devecioǧlu, Ömer; Fadoo, Zehra; Yeoh, Eng Juh; Erichsen, Hans Christian; Mottonen, Merja; Akar, Himmet Haluk; Hastbacka, Johanna; Kaya, Zühre; Nunes, Susana; Patıroğlu, Türkan; Sabel, Magnus; Tuǧrul Sarıbeyoǧlu, Ebru; Tvedt, Tor Henrik Anderson; Ünal, Ekrem; Ünal, Şule; Ünüvar, Ayşegül; Meeths, Marie; Henter, Jan Inge; Nordenskjold, Magnus; Bryceson, Yenan Troi (BioMed Central, 2015)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 ...