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. 2018 Jul 31;18(3):3153–3158. doi: 10.3892/mmr.2018.9342

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Copyright: © Liu et al.

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

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Figure 4. — (A) Heterozygous missense c.6694G>T (p.Asp2232Tyr) mutation in ABCA12 in the proband of the keratosis pilaris family, the proband's father and younger brother. (B) No mutations of ABCA12 were detected in the mother of the proband or the control group. (C) Amino acid sequence of the region surrounding the mutation revealed highly conserved residues. The aspartic acid ‘D’ residue at position 2232 (arrow) presented high conservation among human, horse, Norway rat, cattle, and pig ABCA12 genes. ABCA12, ATP-binding cassette sub-family A member 12.