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. 2014 May 14;9(5):e96471. doi: 10.1371/journal.pone.0096471

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© 2014 Xie 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) SNP-array shows a 4.8 Mb duplication at 5q14.1 (chr5:75132315-79958945); (B) A 175-kb duplication at 10p13 (chr10:16883466-17058324) (UCSC Genome Browser on Human GRCh37/hg19 Assembly). Log R ratio and B alle frequency are showed in the upper panel and annotated genes are listed in the lower panel. (C) Summary of Folate metabolic pathway (Methionine-Homocysteine-Folate-B12 Cycle). DHF, dihydrofolate; THF, tetrahydrofolate; DHFR, dihydrofolate reductase; MTHFR, methylenetetrahydrofolate reductase; SHMT, serine hydroxyl-methyltransferase; MAT, methionine adenosyltransferase; SAH, S-adenosylhomocysteine; SAM, S-adenosylmethionine; MTR, methionine synthase; PRMT, protein arginine methyltransferase; CUBN, Cubilin. Adapted from Lee et al [41].