Molecular basis of familial hemophagocytic lym... [Haematologica. 2010] - PubMed

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UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis. [Haematologica. 2010]
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, et al. Haematologica. 2010 Apr; 95(4):622-6. Epub 2009 Dec 16.
Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3. [Haematologica. 2008]
Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3.
Santoro A, Cannella S, Trizzino A, Bruno G, De Fusco C, Notarangelo LD, Pende D, Griffiths GM, Aricò M. Haematologica. 2008 Jul; 93(7):1086-90. Epub 2008 May 19.
Jinx, an MCMV susceptibility phenotype caused by disruption of Unc13d: a mouse model of type 3 familial hemophagocytic lymphohistiocytosis. [J Exp Med. 2007]
Jinx, an MCMV susceptibility phenotype caused by disruption of Unc13d: a mouse model of type 3 familial hemophagocytic lymphohistiocytosis.
Crozat K, Hoebe K, Ugolini S, Hong NA, Janssen E, Rutschmann S, Mudd S, Sovath S, Vivier E, Beutler B. J Exp Med. 2007 Apr 16; 204(4):853-63. Epub 2007 Apr 9.
Review Hemophagocytic lymphohistiocytosis and related disorders. [Curr Opin Allergy Clin Immunol...]
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Review Hemophagocytic lymphohistiocytosis. [Hematology. 2005]
Review Hemophagocytic lymphohistiocytosis.
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Cited by 3 PubMed Central articles

Familial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series. [PLoS One. 2012]
Familial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series.
Sieni E, Cetica V, Piccin A, Gherlinzoni F, Sasso FC, Rabusin M, Attard L, Bosi A, Pende D, Moretta L, et al. PLoS One. 2012; 7(9):e44649. Epub 2012 Sep 7.
Review Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis. [Arthritis Res Ther. 2012]
Review Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis.
Bode SF, Lehmberg K, Maul-Pavicic A, Vraetz T, Janka G, Stadt UZ, Ehl S. Arthritis Res Ther. 2012 Jun 8; 14(3):213. Epub 2012 Jun 8.
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. [Haematologica. 2010]
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.
Rohr J, Beutel K, Maul-Pavicic A, Vraetz T, Thiel J, Warnatz K, Bondzio I, Gross-Wieltsch U, Schündeln M, Schütz B, et al. Haematologica. 2010 Dec; 95(12):2080-7. Epub 2010 Sep 7.

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Molecular basis of familial hemophagocytic lymphohistiocytosis.
Molecular basis of familial hemophagocytic lymphohistiocytosis.
Haematologica. 2010 Apr ;95(4):538-41. doi: 10.3324/haematol.2009.019562.

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