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. 2020 Apr 14;27(6):1494–1502. doi: 10.1016/j.sjbs.2020.04.011

Fig. 2.

Fig. 2

Sanger sequencing analysis of CD Family. Probands are indicated by the (arrow). Exome sequenced individuals are indicated with an (*) mark showing the electrophoretic trace for mutations of the CPED1 gene. The probands are homozygous to the mutation in exons 2 (c.241 G/G). Both parents are heterozygous for the mutation (c.241 A/G).