Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency
J. Clin. Invest. Robert S. Jackson, et al. 112:1550 doi:10.1172/JCI18784 [Go to this article.]

Figure 1
PC1 mutations in Subject B. (a) Bidirectional cycle sequencing of genomic DNA showed Subject B to be compound heterozygous for Ala213del (A213Δ; deletion of GCA or CAG) and Glu250stop (937G→T), inherited from her mother and her father, respectively. (b) A linear model of PC1, showing the domains and sites of mutations found in Subjects A and B.