A novel pathogenic variant in PRF1 associated with hemophagocytic lymphohistiocytosis. [electronic resource]
Producer: 20160627Description: 501-11 p. digitalISSN:- 1573-2592
- Adolescent
- Adult
- Child
- Child, Preschool
- Computational Biology
- Cytotoxicity, Immunologic -- genetics
- Down-Regulation
- Female
- Humans
- Infant
- Killer Cells, Natural -- physiology
- Lymphohistiocytosis, Hemophagocytic -- diagnosis
- Male
- Middle Aged
- Mutation -- genetics
- Pedigree
- Perforin -- genetics
- Protein Conformation
- Structure-Activity Relationship
- Young Adult
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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