Fig. 1From: Attenuated clinical and osteoclastic phenotypes of Paget’s disease of bone linked to the p.Pro392Leu/SQSTM1 mutation by a rare variant in the DOCK6 geneA Pedigrees of the two families studied by whole exome sequencing. The red arrow targets the participants to the whole exome analysis. B The p.Val45Ile mutation sequence and conservation during evolution of the amino acid valine in position 45 in DOCK6 gene, according to HomologeneBack to article page