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UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis.
Yoon HS, Kim HJ, Yoo KH, Sung KW, Koo HH, Kang HJ, Shin HY, Ahn HS, Kim JY, Lim YT, Bae KW, Lee KO, Shin JS, Lee ST, Chung HS, Kim SH, Park CJ, Chi HS, Im HJ, Seo JJ. Yoon HS, et al. Among authors: lee ko, lee st. Haematologica. 2010 Apr;95(4):622-6. doi: 10.3324/haematol.2009.016949. Epub 2009 Dec 16. Haematologica. 2010. PMID: 20015888 Free PMC article.
Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea.
Seo JY, Song JS, Lee KO, Won HH, Kim JW, Kim SH, Lee SH, Yoo KH, Sung KW, Koo HH, Kang HJ, Shin HY, Ahn HS, Han DK, Kook H, Hwang TJ, Lyu CJ, Lee MJ, Kim JY, Park SS, Lim YT, Kim BE, Koh KN, Im HJ, Seo JJ, Kim HJ; Korea Histiocytosis Working Party. Seo JY, et al. Among authors: lee sh, lee ko, lee mj. Ann Hematol. 2013 Mar;92(3):357-64. doi: 10.1007/s00277-012-1628-6. Epub 2012 Nov 24. Ann Hematol. 2013. PMID: 23180437
420 results