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Journal Abstract Search

120 related items for PubMed ID: 12040827

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  • 2. No mutations of SAP/SH2D1A/DSHP and perforin genes in patients with Epstein-Barr virus-associated hemophagocytic syndrome in Japan.
    Ma X, Okamura A, Yosioka M, Ishiguro N, Kikuta H, Kobayashi K.
    J Med Virol; 2001 Oct; 65(2):358-61. PubMed ID: 11536244
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  • 5. Review of hemophagocytic lymphohistiocytosis (HLH) in children with focus on Japanese experiences.
    Ishii E, Ohga S, Imashuku S, Kimura N, Ueda I, Morimoto A, Yamamoto K, Yasukawa M.
    Crit Rev Oncol Hematol; 2005 Mar; 53(3):209-23. PubMed ID: 15718147
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  • 9. [Familial hemophagocytic lymphohistiocytosis(FHL)].
    Kawa K.
    Ryoikibetsu Shokogun Shirizu; 2000 Mar; (32):553-6. PubMed ID: 11212803
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  • 11. A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis.
    Voskoboinik I, Thia MC, Trapani JA.
    Blood; 2005 Jun 15; 105(12):4700-6. PubMed ID: 15755897
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  • 13. The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inherited missense mutations in the perforin (PFN1) gene.
    Voskoboinik I, Thia MC, De Bono A, Browne K, Cretney E, Jackson JT, Darcy PK, Jane SM, Smyth MJ, Trapani JA.
    J Exp Med; 2004 Sep 20; 200(6):811-6. PubMed ID: 15365097
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  • 15. Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis.
    Ericson KG, Fadeel B, Andersson M, Gudmundsson GH, Gürgey A, Yalman N, Janka G, Nordenskjöld M, Henter JI.
    Hum Genet; 2003 Jan 20; 112(1):98-9. PubMed ID: 12483306
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  • 18. Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.
    Göransdotter Ericson K, Fadeel B, Nilsson-Ardnor S, Söderhäll C, Samuelsson A, Janka G, Schneider M, Gürgey A, Yalman N, Révész T, Egeler R, Jahnukainen K, Storm-Mathiesen I, Haraldsson A, Poole J, de Saint Basile G, Nordenskjöld M, Henter J.
    Am J Hum Genet; 2001 Mar 20; 68(3):590-7. PubMed ID: 11179007
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  • 20. Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan.
    Ueda I, Morimoto A, Inaba T, Yagi T, Hibi S, Sugimoto T, Sako M, Yanai F, Fukushima T, Nakayama M, Ishii E, Imashuku S.
    Br J Haematol; 2003 May 20; 121(3):503-10. PubMed ID: 12716377
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