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. 2015 Nov 25;4:730. doi: 10.1186/s40064-015-1537-y

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© El Hakam Kamareddin et al. 2015

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.

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Fig. 4 — Sequence analysis spanning the vbd mutation site. a (Left) Sequence chromatograph of the otog gene at the level of the splicing site exon 29/intron 29 showing the T > C transition (arrows); (right) partial genomic sequence of the region spanning exon 29 to exon 30 with the corresponding cDNA and amino acid sequence. Top: wildtype; bottom: Otog ^vbd/vbd mutant. b cDNA sequence surrounding the vbd mutation showing the insertion of 17 bp (lowercase bases in bold) including a new splicing site (open red box). The resulting reading frame shift leads to a premature stop codon in the amino acid sequence between VWFD 3 and VWFD 4 domain (uniprot)