These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
11. Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. Molleran Lee S, Villanueva J, Sumegi J, Zhang K, Kogawa K, Davis J, Filipovich AH. J Med Genet; 2004 Feb; 41(2):137-44. PubMed ID: 14757862 [No Abstract] [Full Text] [Related]
14. Rapid LightCycler assay for identification of the perforin codon 374 Trp --> stop mutation in patients and families with hemophagocytic lymphohistiocytosis (HLH). zur Stadt U, Kabisch H, Janka G, Schneider EM. Med Pediatr Oncol; 2003 Jul; 41(1):26-9. PubMed ID: 12764739 [Abstract] [Full Text] [Related]
15. Gene abnormalities in patients with hemophagocytic lymphohistiocytosis. Grunebaum E, Roifman CM. Isr Med Assoc J; 2002 May; 4(5):366-9. PubMed ID: 12040827 [Abstract] [Full Text] [Related]
16. 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 [Abstract] [Full Text] [Related]
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; 68(3):590-7. PubMed ID: 11179007 [Abstract] [Full Text] [Related]
19. Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members. Kogawa K, Lee SM, Villanueva J, Marmer D, Sumegi J, Filipovich AH. Blood; 2002 Jan 01; 99(1):61-6. PubMed ID: 11756153 [Abstract] [Full Text] [Related]