Pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia and family gene analysis: A case report

Figure 6 ACVRL1 gene sequencing results. The black arrow indicates the heterozygous mutation of the exon (12q13.13|NM_000020.2, Exon 8, c. 1232G>A, p. Arg411Gln). β, γ, δ, ε, and ζ are the family members who completed the mutation detection of whole exons, indicating the existence of the mutation. See the pedigree chart for details (Figure 3). A: Reference sequence; B: Proband (β); C: Family member (γ) sequence; D: Family member (δ) sequence; E: Family member (ε) sequence; F: Family member (ζ) sequence.