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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Détails bibliographiques
Auteurs principaux: 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
Langue:Inglês
Publié: Ferrata Storti Foundation 2010
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Original Article
Accès en ligne: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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