Concepedia

Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11

Udo zur Stadt, Jan Rohr, Wenke Seifert, Florian Koch, Samantha Grieve, Julia Pagel, Julia Strauß, Brigitte Kasper, Gudrun Nürnberg, Christian Becker,

The American Journal of Human Genetics · 2009 · 415 citations · 37 references

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37

HLH‐2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis

Jan‐Inge Henter, AnnaCarin Horne, Maurizio Aricò et al. · Pediatric Blood & Cancer · 2006 · 5.3K citations

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Merlin—rapid analysis of dense genetic maps using sparse gene flow trees

Gonçalo R. Abecasis, Stacey S. Cherny, William Cookson et al. · Nature Genetics · 2001 · 3.4K citations

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Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis

Susan E. Stepp, Rémi Dufourcq-Lagelouse, Françoise Le Deist et al. · Science · 1999 · 1.2K citations

, , +15

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

Gaël Ménasché, Élodie Pastural, Jérôme Feldmann et al. · Nature Genetics · 2000 · 952 citations

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Munc13-4 Is Essential for Cytolytic Granules Fusion and Is Mutated in a Form of Familial Hemophagocytic Lymphohistiocytosis (FHL3)

Jérôme Feldmann, Isabelle Callebaut, Graça Raposo et al. · Cell · 2003 · 927 citations · Full text

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