Spectrum of Perforin Gene Mutations in Familial Hemophagocytic Lymphohistiocytosis
✍ Scribed by Kim Göransdotter Ericson; Bengt Fadeel; Sofie Nilsson-Ardnor; Cilla Söderhäll; AnnaCarin Samuelsson; Gritta Janka; Marion Schneider; Aytemiz Gürgey; Nevin Yalman; Tom Révész; R. Maarten Egeler; Kirsi Jahnukainen; Ingebjörg Storm-Mathiesen; Ásgeir Haraldsson; Janet Poole; Geneviève de Saint Basile; Magnus Nordenskjöld; Jan-Inge Henter
- Book ID
- 117853554
- Publisher
- American Society of Human Genetics
- Year
- 2001
- Tongue
- English
- Weight
- 169 KB
- Volume
- 68
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/318796
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📜 SIMILAR VOLUMES
## Abstract Since the discovery of __perforin__ gene mutations in familial hemophagocytic lymphohistiocytosis (FHL) type 2, heterogeneous features in FHL2 patients have been identified in a report of Feldmann et al. as the beginning. This study was conducted to determine the impact of characteristi