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A Novel Perforin Gene Mutation in a Japanese Family with Hemophagocytic Lymphohistiocytosis

✍ Scribed by Ikuyo Ueda; Shigeyoshi Hibi; Tohru Sugimoto; Akira Morimoto; Urara Kohdera; Tohru Inaba; Ken Yamamoto; Eiichi Ishii; Shinsaku Imashuku


Book ID
111835496
Publisher
Carden Jennings Publishing
Year
2006
Tongue
English
Weight
109 KB
Volume
83
Category
Article
ISSN
0925-5710

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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