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. Author manuscript; available in PMC: 2016 Jan 26.
Published in final edited form as: N Engl J Med. 2014 Feb 26;370(11):1019–1028. doi: 10.1056/NEJMoa1310359

Figure 1. Identification of Somatic PRKACA Mutation and Germline Genetic Duplications.

Figure 1

Panel A shows a sequence chromatogram of normal adrenal tissue, and Panel B a chromatogram of a cortisol-producing adrenal adenoma. A somatic mutation in PRKACA (c.617A→C) was identified in the cortisol-producing adenoma, resulting in a Leu206Arg substitution that is not present in the adjacent normal tissue. Panel C shows an ideogram of chromosome 19 (top) with the genes included in the p13.2–p13.12 band (GRCh37/h19). The black blocks (bottom) represent the size and position of the duplications. The gray blocks represent the genes included only in the shared region of duplication. The red block represents PRKACA.