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. 2019 Jan 24;9:645. doi: 10.1038/s41598-018-37272-5

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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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Minigene analysis of rs147546939. (A) The construct used for transfection. The blue boxes are exon sequences of TYR; 3: 91 bp of exon 3; 4: 47 bp of exon 4. The green box indicates the position of rs147546939, WT: rs147546939A and MUT: rs147546939G. The orange box indicates the pseudoexon. (B) Transfection of constructs in ARPE cells. Both constructs show inclusion of the 79 bp pseudoexon located several kb downstream of rs147546939 in the normal endogenous TYR. The identity of the bands was investigated by sequence analysis.