A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis.
BMC Med Genet 2017 05 3;18(1):49. Epub 2017 May 3.
Center for Therapeutic Innovation, Department of Psychiatry and Behavioral Sciences, University of Miami Miller School of Medicine, 1501 NW 10th Ave, BRB 508, Miami, FL, 33136, USA.