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