Fig. 2

a Pedigree of the family. Filled symbols indicate affected individuals. The genotype for each family member is reported: +/− indicated the heterozygous and −/− the homozygous for the mutant allele. b Direct fluorescent sequencing of the exon 9 of the C8B gene. A control sequence homozygous for p.248Arg is reported along with the sequences from a heterozygous parent and a sib homozygous for the p.248Stop