Figure 1. Segregation analysis of the mutation c.672C>A (p.C224X) identified in family FRP-233. A: Electropherogram corresponding to the wild type sequence (c.672C). B: Electropherogram corresponding to the healthy mother, carrying the mutation in heterozygous state (c.672C>A). C: Electropherogram corresponding to the patient, carrying the mutation in homozygous state (c.672A). Blue arrow indicates position c.672 is in A, B and C, D: Family tree showing the segregation of the p.C224X mutation.