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. Author manuscript; available in PMC: 2016 Dec 1.
Published in final edited form as: Am J Med Genet A. 2016 Aug 17;170(12):3298–3302. doi: 10.1002/ajmg.a.37942

FIG. 2.

FIG. 2

Somatic mosaicism for the TRPV4 mutation. (A) Ethidium bromide-stained 2% agarose gel showing BsrBI-cleaved PCR products containing TRPV4 exon 12. The p.L618P mutation created a BsrBI site which was detected in both the heterozygous lethal MD control, R09-035 and the mosaic proband, R09-440A, but not in DNA from the parents of the mosaic proband. (B) Measurement of the level of somatic mosaicism in the proband (triangle). The level of mosaicism was matched to a standard curve (data points represented by diamonds). Error bars represent standard error.