Associated Papers
Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis.
Shibata H et al.
Blood, 2018
Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3.
Santoro A et al.
Haematologica, 2008
Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis.
Santoro A et al.
Journal of Medical Genetics, 2006
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