Fig. 2From: A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosisThe proband is a boy with hepatitis and pancytopnea and his parents has consanguineous marriage. NGS results indicate homozygous mutation in PRF1 gene in the proband as visualized using Integrative Genome Viewer (IGV) and using Sanger sequencing presence of the identified heterozygous mutation in PRF1 gene was confirmed in the parentsBack to article page