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(A) Pedigree of Patient A. (B) Capillary zone electrophoresis trace from Patient A demonstrating absent beta-2 peak. (C) Sequencing chromatograms from Patient A demonstrating c.129C>A and c.559C>T mutations in the heterozygous states. Codon positions and wild-type amino-acids are indicated below. (D) Schematic of the domain structure of complement factor I protein demonstrating position of mutations from Patient A (black) and Patient B (blue).
