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

Rapid intracellular transport and secretion of cytotoxic granules through the immunological synapse requires a balanced interaction of several proteins. Disturbance of this highly regulated process underlies familial hemophagocytic lymphohistiocytosis (FHL), a genetically heterogeneous autosomal-rec...

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Main Authors: zur Stadt, Udo, Rohr, Jan, Seifert, Wenke, Koch, Florian, Grieve, Samantha, Pagel, Julia, Strauß, Julia, Kasper, Brigitte, Nürnberg, Gudrun, Becker, Christian, Maul-Pavicic, Andrea, Beutel, Karin, Janka, Gritta, Griffiths, Gillian, Ehl, Stephan, Hennies, Hans Christian
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2009
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2756548/
https://ncbi.nlm.nih.gov/pubmed/19804848
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.09.005
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