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. 2019 Oct 17;105(5):1040–1047. doi: 10.1016/j.ajhg.2019.09.024

Figure 1.

Figure 1

Mapping and Localization of the RPL13 (eL13) Variants Observed in Four Individuals

(A) Schematic representation of the gene RPL13 located in 16q24.3 region and its protein with the site of variants in the intron 5.

(B) Agarose gel electrophoresis of RT-PCR products of RPL13 mRNA from two healthy donors, one parent, P1, and P2 (left panel). Western blot analysis of cell lysates from MSCs or lymphoblastoid cells from healthy donors (HD), P1, and P2 illustrating the presence of the variant protein RPL13, 2kDa larger than the wild type protein. β-tubulin was used as loading control (right panel).

(C) Pedigree drawings, intragenic variants of RPL13 revealed by Sanger and X-Rays photographs of individuals at the ages (respectively) of 4 years and 4 months (P1), 3 years and 4 months (P2), 4 years (P3), and 2 years and 10 months (P4) showing shortened long bones, bowed femora with metaphyseal enlargement, and irregularities.