title: Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis.
authors.forename: R
authors.initials: R
authors.lastname: Clementi
authors.forename: U
authors.initials: U
authors.lastname: zur Stadt
authors.forename: G
authors.initials: G
authors.lastname: Savoldi
authors.forename: S
authors.initials: S
authors.lastname: Varoitto
authors.forename: V
authors.initials: V
authors.lastname: Conter
authors.forename: C
authors.initials: C
authors.lastname: De Fusco
authors.forename: L D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: M
authors.initials: M
authors.lastname: Schneider
authors.forename: C
authors.initials: C
authors.lastname: Klersy
authors.forename: G
authors.initials: G
authors.lastname: Janka
authors.forename: C
authors.initials: C
authors.lastname: Danesino
authors.forename: M
authors.initials: M
authors.lastname: Aricò
mesh_terms: D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics; D018388:Codon, Terminator / Q000235:genetics; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005869:Ghana; D015616:Histiocytosis, Non-Langerhans-Cell / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007558:Italy; D008297:Male; D008562:Membrane Glycoproteins / Q000737:chemistry / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins; D017434:Protein Structure, Tertiary; D016896:Treatment Outcome; D014421:Turkey
chemical_list: D018389:Codon, Nonsense; D018388:Codon, Terminator; D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin