[Three remaining patients with MAS, however, had decreased NK activity associated with low levels of perforin expression in all cytotoxic cell populations, a pattern indistinguishable from that in carriers of perforin-deficient familial hemophagocytic lymphohistiocytosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE