Media Center

Gao, Lili et al. Translational Research.

Gao, Lili et al. Translational Research. 2015 Dec

Lili Gao and colleagues present a whole-exome sequencing analysis to search the potential “second-hit” mechanism that underlies the onset of Familial hemophagocytic lymphohistiocytosis type 2(FHL2). They have found a novel type of compound heterozygous mutation in PRF1 and a homozygous germline mutation in PCDH18. Their findings strongly argue that the presence of a “second” germline mutation besides the PRF1 gene might be potentially an important mechanism for triggering the onset of FHL2.



What they say
about Alamut

"I recommend Alamut to all of my colleagues and friends in genomics!"

EDGARDO R. PARRILLA, MD
Duke University, Durham, USA

Events

15.10.2019

ASHG 2019

USA

15.06.2019

ESHG 2019

Sweden