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10.1182/blood-2014-11-610816

http://scihub22266oqcxt.onion/10.1182/blood-2014-11-610816
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C4351505!4351505!25564401
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suck abstract from ncbi


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pmid25564401      Blood 2015 ; 125 (10): 1566-77
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  • Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion #MMPMID25564401
  • Spessott WA; Sanmillan ML; McCormick ME; Patel N; Villanueva J; Zhang K; Nichols KE; Giraudo CG
  • Blood 2015[Mar]; 125 (10): 1566-77 PMID25564401show ga
  • Monoallelic STXBP2 mutations affecting codon 65 impair lymphocyte cytotoxicity and contribute to hemophagocytic lymphohistiocytosis.Munc18-2R65Q/W mutant proteins function in a dominant-negative manner to impair membrane fusion and arrest SNARE-complex assembly.
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