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. Author manuscript; available in PMC: 2013 Jul 1.
Published in final edited form as: Hum Mutat. 2012 Apr 16;33(7):1037–1044. doi: 10.1002/humu.22081

Figure 1. Detection of RPL19 mutant form by Western blot.

Figure 1

Immunoblot shows RPL19 protein in all family members (with and without deletion (c. 562_563delTT) in the RPL19 gene). RPL19 mutant protein was detected in the probands and his clinically unaffected mother and brother with RPL19 deletion. Mut, mutation; Pt, patient; M*, mother; B*, brother; F, father; Sa, sister a; Sb, sister b.