Missense mutations in the perforin (PRF1) gene as a cause of hereditary cancer predisposition

Perforin, a pore-forming toxin released from secretory granules of NK cells and CTLs, is essential for their cytotoxic activity against infected or cancerous target cells. Bi-allelic loss-of-function mutations in the perforin gene are invariably associated with a fatal immunoregulatory disorder, fam...

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Publicat a:Oncoimmunology
Autors principals: Chaudhry, Mohammed S., Gilmour, Kimberly C., House, Imran G., Layton, Mark, Panoskaltsis, Nicki, Sohal, Mamta, Trapani, Joseph A., Voskoboinik, Ilia
Format: Artigo
Idioma:Inglês
Publicat: Taylor & Francis 2016
Matèries:
Brief Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5006901/
https://ncbi.nlm.nih.gov/pubmed/27622035
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/2162402X.2016.1179415
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