Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis

S. Molleran Lee, J. Villanueva, J. Sumegi, K. Zhang, K. Kogawa, J. Davis, A. H. Filipovich

Research output: Contribution to journalArticle

132 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)137-144
Number of pages8
JournalJournal of Medical Genetics
Volume41
Issue number2
StatePublished - Feb 2004
Externally publishedYes

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Pore Forming Cytotoxic Proteins
Molecular Sequence Data
Non-Langerhans-Cell Histiocytosis
Hemophagocytic Lymphohistiocytosis
Membrane Glycoproteins
Preschool Children
North America
Natural Killer Cells
Amino Acid Sequence
Cohort Studies
Newborn Infant
Mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Molleran Lee, S., Villanueva, J., Sumegi, J., Zhang, K., Kogawa, K., Davis, J., & Filipovich, A. H. (2004). Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. Journal of Medical Genetics, 41(2), 137-144.

Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. / Molleran Lee, S.; Villanueva, J.; Sumegi, J.; Zhang, K.; Kogawa, K.; Davis, J.; Filipovich, A. H.

In: Journal of Medical Genetics, Vol. 41, No. 2, 02.2004, p. 137-144.

Research output: Contribution to journalArticle

Molleran Lee, S, Villanueva, J, Sumegi, J, Zhang, K, Kogawa, K, Davis, J & Filipovich, AH 2004, 'Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis', Journal of Medical Genetics, vol. 41, no. 2, pp. 137-144.
Molleran Lee, S. ; Villanueva, J. ; Sumegi, J. ; Zhang, K. ; Kogawa, K. ; Davis, J. ; Filipovich, A. H. / Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. In: Journal of Medical Genetics. 2004 ; Vol. 41, No. 2. pp. 137-144.
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