title: Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis.
authors.forename: S
authors.initials: S
authors.lastname: Molleran Lee
authors.forename: J
authors.initials: J
authors.lastname: Villanueva
authors.forename: J
authors.initials: J
authors.lastname: Sumegi
authors.forename: K
authors.initials: K
authors.lastname: Zhang
authors.forename: K
authors.initials: K
authors.lastname: Kogawa
authors.forename: J
authors.initials: J
authors.lastname: Davis
authors.forename: A H
authors.initials: AH
authors.lastname: Filipovich
mesh_terms: D000595:Amino Acid Sequence / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D015616:Histiocytosis, Non-Langerhans-Cell / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007694:Killer Cells, Natural / Q000502:physiology*; D008297:Male; D008562:Membrane Glycoproteins / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009656:North America; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins
chemical_list: D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin