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. 2019 Apr 30;9:6683. doi: 10.1038/s41598-019-43109-6

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© The Author(s) 2019

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as 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. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Identification of mutations in DNAH11 in family 1. (A) The pedigree of family 1 (#5031). The proband from family 1 has two heterozygous mutations in DNAH11. The other members in this family are carriers. Sanger sequencing confirmation is shown below the pedigrees. A square represents male and a circle represents female. A black arrow indicates the proband. (B) Locations and conservation of mutations in DNAH11. The positions of mutations are indicated in the genomic structure of DNAH11. The amino acid changes were compared among eight mammalian species by conservation analysis. MT1: c.G846C (p.M282I); MT2: c.G2406A (p.W802X).