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. 2015 Mar 18;23(12):1679–1683. doi: 10.1038/ejhg.2015.49

Figure 1.

Figure 1

Pedigree of the Swedish family segregating FVM and a TBS in ACTG2. (a) The genotype at cDNA positions 806–807 of ACTG2 is shown below each symbol (GC, wild-type allele; AA, disease-associated allele). Affected individuals are shown with black filled symbols. Ind. I:2 with suspected disease is shown in gray. Asterisks denote subjects analyzed by WES. (b) Chromatogram of part of the ACTG2 transcript from fibroblasts in the affected ind. III:9 showing expression of the wild-type (GC) and the mutated transcripts (AA) at cDNA positions 806–807.