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The Functional Basis for Hemophagocytic Lymphohistiocytosis in a Patient with Co-inherited Missense Mutations in the Perforin (PFN1) Gene
About 30% of cases of the autosomal recessive immunodeficiency disorder hemophagocytic lymphohistiocytosis are believed to be caused by inactivating mutations of the perforin gene. We expressed perforin in rat basophil leukemia cells to define the basis of perforin dysfunction associated with two mu...
| Autores principales: | , , , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
The Rockefeller University Press
2004
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2211966/ https://www.ncbi.nlm.nih.gov/pubmed/15365097 http://dx.doi.org/10.1084/jem.20040776 |