Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations
Trizzino A, Stadt U, Ueda I, Risma K, Janka G, Ishii E, Beutel K, Sumegi J, Cannella S, Pende D, Mian A, Henter J, Griffiths G, Santoro A, Filipovich A, Aricò M, group F. Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. Journal Of Medical Genetics 2007, 45: 15. PMID: 17873118, DOI: 10.1136/jmg.2007.052670.Peer-Reviewed Original ResearchConceptsNatural killer activityAssociated with younger ageGenotype-phenotype analysisPerforin expressionNK activityPRF1 mutationsCytotoxic functionHistiocyte SocietyJapanese patientsGene mutationsIn-frame deletionKiller activityNonsense mutationFlow cytometryPatientsMissense mutationsG-->AType 2Younger ageMutationsPRF1MissenseNonsenseAgeData pooling
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