title: PRF1 gene mutation in a Saudi patient with haemophagocytic lymphohistiocytosis.
authors.affiliation: King Saud bin Abdulaziz University for Health Sciences, College of Medicine, Saudi Arabia. balwim@ngha.med.sa
authors.forename: M A
authors.initials: MA
authors.lastname: Al Balwi
authors.forename: T
authors.initials: T
authors.lastname: Al Harbi
authors.forename: I
authors.initials: I
authors.lastname: Al Abdulkareem
authors.forename: A H
authors.initials: AH
authors.lastname: Hajeer
mesh_terms: D003241:Consanguinity; D004252:DNA Mutational Analysis; D006801:Humans; D007223:Infant; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins / Q000235:genetics*; D012529:Saudi Arabia
chemical_list: C510468:PRF1 protein, human; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin