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. 2015 Jun 25;16:41. doi: 10.1186/s12881-015-0183-0

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© Rafiq et al. 2015

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), 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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Fig. 3 — a Ideogram of chromosome 8, indicating location of HBD at 8q22. b Genomic organization of VPS13B/COH1, indicating location of the NM_017890.4:c.6879delT mutation (RQMR10 and ATM02) in exon 38, as well as the deleted region (exons 37–39) in ANMR51. c Electropherograms indicating the wild type homozygous (top), heterozygous (middle) and mutant homozygous (bottom) sequence across NM_017890.4:c.6879 (RQMR10 and ATM02). d Electropherogram from mRNA sequencing from an affected individual from ANMR51, indicating the (aberrant) splicing of exons 36 and 40