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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.
