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. 2014 Feb 3;9(2):e87250. doi: 10.1371/journal.pone.0087250

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© 2014 Liu et al

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.

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A: Two mutations in ABCB6 and their sequencing traces, including c.1358C>T; p.Ala453Val in the Family 1 and c.964A>C; p.Ser322Lys in the Family 2; Arrows indicate the location of the two mutations. B: A partial sequence of ABCB6 was compared with other species’ orthologs. Arrows indicate the location of the two mutations identified in patients with DUH. C: ABCB6 exon structure, where c.964A>C; p.S322L and c.1358C>T; p.A453V are DUH mutations identified in this paper, c.169G>A; p.A57T and c.2431C>G; p.L811V are coloboma mutations⁷.