Fig. 2
From: Hemophagocytic lymphohistiocytosis and congenital factor VII deficiency: a case report
Congenital factor VII (FVII) deficiency. a, The family tree of a Chinese family with HLH and congenital FVII deficiency. Square and circle denoted male or female respectively. Full-filled square and circle meant patients, and half-filled symbols represented heterozygous carrier. The arrow indicated the proband. A question mark meant that genetic analysis was unavailable. b, Sanger sequencing of F7 c.64 + 5G > A and c.1224 T > G mutations. c, Splicing site prediction by Splice Site Score Calculation (http://rulai.cshl.edu/new_alt_exon_db2/HTML/score.html), Splice Site Prediction by Neural Network (http://www.fruitfly.org/seq_tools/splice.html), and Netgene2 (http://www.cbs.dtu.dk/services/NetGene2/)