STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5. [electronic resource]
Producer: 20101215Description: 595-600 p. digitalISSN:- 1468-6244
- Alleles
- Cell Degranulation
- Child
- Child, Preschool
- Cytotoxicity, Immunologic
- Female
- Flow Cytometry
- Humans
- Immunoprecipitation
- Infant
- Lymphohistiocytosis, Hemophagocytic -- classification
- Lysosomal-Associated Membrane Protein 1 -- metabolism
- Male
- Munc18 Proteins -- genetics
- Mutation -- genetics
- T-Lymphocytes, Cytotoxic -- physiology
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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