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. 2012 May 17;132(9):2184–2191. doi: 10.1038/jid.2012.143

Figure 2.

Figure 2

Sequence traces showing the presence of GJB2 mutations (arrows) in lesional (bottom panels) but not in unaffected skin (top panels). Patient 1 has a transition c.40A>T mutation (N14Y) (a), whereas patient 2 presents with a transversion c.279G>A mutation (M93I) (b). Reduced peak height at mutation point is indicative of mosaicism.