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Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis

✍ Scribed by Stepp, Susan E. (author);Dufourcq-Lagelouse, Rémi (author);Le Deist, Françoise (author);Bhawan, Sadhna (author);Certain, Stéphanie (author);Mathew, Porunelloor A. (author);Henter, Jan Inge (author);Bennett, Michael (author);Fischer, Alain (author);De Saint Basile, Geneviève (author);Kumar, Vinay (author)


Book ID
121161870
Publisher
American Association for the Advancement of Science
Year
1999
Tongue
English
Weight
347 KB
Volume
286
Category
Article
ISSN
0036-8075

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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