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. Author manuscript; available in PMC: 2013 Oct 16.
Published in final edited form as: Am J Med Genet A. 2010 Oct;0(10):2493–2504. doi: 10.1002/ajmg.a.33618

Figure 4.

Figure 4

Pyrosequencing analysis of the DISP1 mosaic mutation [c.4412C>G (p.Ala1471Gly)] in Patient 1 and his family members. The mutated base (C>G) is highlighted in yellow. Quantitative analysis identifies that the mutation is present in 43%, 12%, 4.5% of the patient’s samples from lymphoblastoid cell line, peripheral blood cells, and saliva, respectively.