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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: kim jy, kim hj, kim sh. Haematologica. 2010 Apr;95(4):622-6. doi: 10.3324/haematol.2009.016949. Epub 2009 Dec 16. Haematologica. 2010. PMID: 20015888 Free PMC article.
Role of p16 in the pathogenesis of Langerhans cell histiocytosis.
Kim SY, Kim HJ, Kim HJ, Park MR, Koh KN, Im HJ, Lee CH, Seo JJ. Kim SY, et al. Among authors: kim hj. Korean J Hematol. 2010 Dec;45(4):247-52. doi: 10.5045/kjh.2010.45.4.247. Epub 2010 Dec 31. Korean J Hematol. 2010. PMID: 21253426 Free PMC article.
Safety and feasibility of countering neurological impairment by intravenous administration of autologous cord blood in cerebral palsy.
Lee YH, Choi KV, Moon JH, Jun HJ, Kang HR, Oh SI, Kim HS, Um JS, Kim MJ, Choi YY, Lee YJ, Kim HJ, Lee JH, Son SM, Choi SJ, Oh W, Yang YS. Lee YH, et al. Among authors: kim hj, kim hs, kim mj. J Transl Med. 2012 Mar 23;10:58. doi: 10.1186/1479-5876-10-58. J Transl Med. 2012. PMID: 22443810 Free PMC article. Clinical Trial.
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: kim jy, kim hj, kim be, kim sh, kim jw. Ann Hematol. 2013 Mar;92(3):357-64. doi: 10.1007/s00277-012-1628-6. Epub 2012 Nov 24. Ann Hematol. 2013. PMID: 23180437
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