Spectrum of Perforin Gene Mutations in Familial Hemophagocytic Lymphohistiocytosis
- 1 March 2001
- journal article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 68 (3), 590-597
- https://doi.org/10.1086/318796
Abstract
No abstract availableKeywords
This publication has 37 references indexed in Scilit:
- Perforin Gene Defects in Familial Hemophagocytic LymphohistiocytosisScience, 1999
- Linkage of Familial Hemophagocytic Lymphohistiocytosis to 10q21-22 and Evidence for HeterogeneityAmerican Journal of Human Genetics, 1999
- Characteristic Immune Abnormalities in Hemophagocytic LymphohistiocytosisJournal of Pediatric Hematology/Oncology, 1996
- Hyper‐interleukin (IL)‐6‐naemia in haemophagocytic lymphohistiocytosisBritish Journal of Haematology, 1996
- Activation of the apoptotic protease CPP32 by cytotoxic T-cell-derived granzyme BNature, 1995
- Perforin: structure and functionImmunology Today, 1995
- Human Fas ligand: gene structure, chromosomal location and species specificityInternational Immunology, 1994
- Hypercytokinemia in Hemophagocytic SyndromeJournal of Pediatric Hematology/Oncology, 1993
- Structure and function of human perforinNature, 1988
- Impaired natural killer activity in lymphohistiocytosis syndromeThe Journal of Pediatrics, 1984