Associated Papers
Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea.
Seo JY et al.
Annals of Hematology, 2013
A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function.
Elstak ED et al.
Pediatric Blood & Cancer, 2012
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
Sieni E et al.
Journal of Medical Genetics, 2011
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