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. 2017 Mar 8;13(5):1773–1778. doi: 10.3892/etm.2017.4191

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Copyright: © Zhao et al.

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

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Figure 3. — Mutation analysis in subjects with BMP2K mutations. (A) c.1432_1440delCAGCAGCAG and c.1440_1441insCAG mutations in exon 11 of BMP2K in the pedigree as determined by whole-exome sequencing (top one for II7, III10 and IV6 in the pedigree, middle one for III3 in the pedigree, separately) compared to the control (bottom one for III2 in the pedigree). (B) The c.1432_1440delCAGCAGCAG mutation in BMP2K was validated by Sanger sequencing in three unrelated sporadic cases of developmental dysplasia of the hip (top three) compared to one control (bottom one). The mutated nucleotide is indicated by an arrow.