Citations for
1HPLH4, STX11
Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4).
Macartney CA, Weitzman S, Wood SM, Bansal D, Steele M, Meeths M, Abdelhaleem M, Bryceson YT.
Pediatr Blood Cancer 56(4):654-7. doi: 10.1002/pbc.22676. Epub 2010 Dec 27. 2011
2HPLH4, STX11
Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis.
Danielian S, Basile N, Rocco C, Prieto E, Rossi J, Barsotti D, Roche PA, Bernasconi A, Oleastro M, Zelazko M, Braier J.
J Clin Immunol 30(2):330-7. Epub 2009 Dec 5. 2010
3HPLH2, HPLH3, HPLH4, PRF1, STX11, UNC13D
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.
Horne A, Ramme KG, Rudd E, Zheng C, Wali Y, al-Lamki Z, Gürgey A, Yalman N, Nordenskjöld M, Henter JI.
Br J Haematol 143(1):75-83. Epub 2008 Aug 15. 2008
4PRF1, HPLH2, UNC13D, HPLH3, RAB27A, VCIPD2, STX11, HPLH4
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
Zur Stadt U, Beutel K, Kolberg S, Schneppenheim R, Kabisch H, Janka G, Hennies HC.
Hum Mutat 27(1):62-8. 2006
5HPLH4, STX11
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.
zur Stadt U, Schmidt S, Kasper B, Beutel K, Diler AS, Henter JI, Kabisch H, Schneppenheim R, Nurnberg P, Janka G, Hennies HC.
Hum Mol Genet 14(6):827-34. Epub 2005 Feb 9. 2005