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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Invasive meningococcal disease in three siblings with hereditary deficiency of the 8th component of complement: evidence for the importance of an early diagnosis

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

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172