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. 2015 Aug 5;24(4):550–555. doi: 10.1038/ejhg.2015.139

Figure 2.

Figure 2

Identification of variants in ABCB7 and ATP7A genes. Representation of genomic region containing mutations using IGV (Integrative Genomics Viewer) tools: (a) exon 16 of ABCB7 gene (hg19 chrX:g.742734204C>T), (b) 41.4 kb deleted region of the ATP7A gene (hg19 chrX:g.77190006_77231471del), including exon 2; vertical arrows in (a) and (b) indicated the chromosomal loci for ABCB7 and ATP7A genes. (c) Sequencing verification of candidate mutations in exon 16 of ABCB7 gene. (d) Primers scheme for validation of deletion in ATP7A gene. (e) Sequencing validation by Sanger sequencing of deletion in ATP7A gene in the patients. (f) PCR products of the ATP7A gene deleted region: M, DNA ladder; R, upstream ‘right' flanking with deletion region; In, region inner deletion; L, downstream ‘left' flanking with deletion region (R, In, L – products are present if deletion is absent; Del – product is present if there is deletion in DNA sample).