A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13‐4 function

@article{Elstak2012AND,
  title={A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13‐4 function},
  author={Edo D Elstak and Maroeska Te Loo and Kiki Tesselaar and Peter van Kerkhof and Jan L Loeffen and Dimitris Grivas and Eric Fam Hennekam and Jaap Jan Boelens and Peter M Hoogerbrugge and Peter van der Sluijs and Marielle van Gijn and Lisette van de Corput},
  journal={Pediatric Blood \& Cancer},
  year={2012},
  volume={58}
}
UNC13D, encoding the protein munc13‐4, is essential in intracellular trafficking and exocytosis of lytic granules. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3 (FHL3), a genetically heterogeneous, rare autosomal recessive immune disorder. How mutations affect function of munc13‐4 is poorly understood. Since 2006 we genetically identified seven FHL patients with mutations in UNC13D. 
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TLDR
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