Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

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 diag...

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Bibliografiska uppgifter
I publikationen:Genome Med
Huvudupphovsmän: Tesi, Bianca, Lagerstedt-Robinson, Kristina, Chiang, Samuel C. C., Bdira, Eya Ben, Abboud, Miguel, Belen, Burcu, Devecioglu, Omer, Fadoo, Zehra, Yeoh, Allen E. J., Erichsen, Hans Christian, Möttönen, Merja, Akar, Himmet Haluk, Hästbacka, Johanna, Kaya, Zuhre, Nunes, Susana, Patiroglu, Turkan, Sabel, Magnus, Saribeyoglu, Ebru Tugrul, Tvedt, Tor Henrik, Unal, Ekrem, Unal, Sule, Unuvar, Aysegul, Meeths, Marie, Henter, Jan-Inge, Nordenskjöld, Magnus, Bryceson, Yenan T.
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2015
Ämnen:
Research
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4684627/
https://ncbi.nlm.nih.gov/pubmed/26684649
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-015-0244-1
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