UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis

BACKGROUND: Familial hemophagocytic lymphohistiocytosis is a fatal disease characterized by immune dysregulation from defective function of cytotoxic lymphocytes. Three causative genes have been identified for this autosomal recessive disorder (PRF1, UNC13D, and STX11). We investigated the molecular...

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Hauptverfasser: Yoon, Hoi Soo, Kim, Hee-Jin, Yoo, Keon-Hee, Sung, Ki-Woong, Koo, Hong-Hoe, Kang, Hyoung Jin, Shin, Hee Young, Ahn, Hyo Seop, Kim, Ji-Yoon, Lim, Young-Tak, Bae, Keun-Wook, Lee, Ki-O, Shin, Ji-Sook, Lee, Seung-Tae, Chung, Hae-Sun, Kim, Sun-Hee, Park, Chan-Jeoung, Chi, Hyun-Sook, Im, Ho-Joon, Seo, Jong Jin
Format: Artigo
Sprache:Inglês
Veröffentlicht: Ferrata Storti Foundation 2010
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2857192/
https://ncbi.nlm.nih.gov/pubmed/20015888
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2009.016949
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