PMC Links for OMIM (Select 608897) - PMC

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Items: 3

Select item 29242251.

Munc13-4 is a limiting factor in the pathway required for platelet granule release and hemostasis

Qiansheng Ren, Christian Wimmer, Michael C. Chicka, Shaojing Ye, Yi Ren, Frederick M. Hughson, Sidney W. Whiteheart

Blood. 2010 Aug 12; 116(6): 869–877. Prepublished online 2010 Apr 30. doi: 10.1182/blood-2010-02-270934

PMCID:: PMC2924225

Abstract Article

Select item 25632072.

Novel Munc13–4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis

A Santoro, S Cannella, G Bossi, F Gallo, A Trizzino, D Pende, F Dieli, G Bruno, J C Stinchcombe, C Micalizzi, C De Fusco, C Danesino, L Moretta, L D Notarangelo, G M Griffiths, M Aricò

J Med Genet. 2006 Dec; 43(12): 953–960. Published online 2006 Jul 6. doi: 10.1136/jmg.2006.041863

PMCID:: PMC2563207

Abstract Article PDF–836K

Select item 21185593.

Jinx, an MCMV susceptibility phenotype caused by disruption of Unc13d: a mouse model of type 3 familial hemophagocytic lymphohistiocytosis

Karine Crozat, Kasper Hoebe, Sophie Ugolini, Nancy A. Hong, Edith Janssen, Sophie Rutschmann, Suzanne Mudd, Sosathya Sovath, Eric Vivier, Bruce Beutler

J Exp Med. 2007 Apr 16; 204(4): 853–863. doi: 10.1084/jem.20062447