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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Ferrata Storti Foundation 2010
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Original Article
Accesso online: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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