Figure 2.

Identification of CTC1 variants. (a) Sequencing results of CTC1 exons. CTC1 variants found in BB1010 and MEAD1010 are shown as follows: arrows indicate heterozygous changes. F indicates forward sequencing. (b) Western analysis of nuclear proteins in the BB1010 and MEAD pedigrees. The top panel shows the CTC1 protein, and the bottom panel shows the lamin A/C protein (LMNA). Numbers indicate the CTC1 protein levels relative to that of the control after normalization with the internal standard, lamin A/C