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Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection.
Haematologica. 2006 Sep;91(9):1257-60.
Haematologica. 2006.
PMID: 16956828
Functional assessment of perforin C2 domain mutations illustrates the critical role for calcium-dependent lipid binding in perforin cytotoxic function.
Urrea Moreno R, Gil J, Rodriguez-Sainz C, Cela E, LaFay V, Oloizia B, Herr AB, Sumegi J, Jordan MB, Risma KA.
Urrea Moreno R, et al.
Blood. 2009 Jan 8;113(2):338-46. doi: 10.1182/blood-2008-08-172924. Epub 2008 Oct 16.
Blood. 2009.
PMID: 18927437
Free PMC article.
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