Mutations in ABCB6.
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https://figshare.com/articles/dataset/_Mutations_in_ABCB6_/926254
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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.
创建时间：
2014-02-03
