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. 2014 Mar 19;15:34. doi: 10.1186/1471-2350-15-34

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Copyright © 2014 Bai et al.; licensee BioMed Central Ltd.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Sequencing analysis of novel missense mutation in exon 20 of TECTA. A. Agarose gel analysis of PCR product TECTA exon 20. 1:I2; 2:II3; 3:III15; 4: III7;5: IV6; 6: II2;7: II7;8: II5;9: II8;10: III3; 11: III10;12: III21;13: III26;14: III28;15: IV4;16: IV14; 17:IV18. B. Representative Sanger sequencing trace showing heterozygous missense mutation at G6016T (arrow) from patients and control subjects. C. Multi-species alignment of amino acids encoded by exon 20 of TECTA across different vertebrates. The conserved aspartate residue is highlighted in red.