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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

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Late-onset cases of familial hemophagocy
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## 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