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. Author manuscript; available in PMC: 2013 Dec 1.
Published in final edited form as: Circ Cardiovasc Genet. 2012 Oct 24;5(6):621–629. doi: 10.1161/CIRCGENETICS.112.964064

Figure 3.

Figure 3

TGFbRII and TGFbIIb mutations in families KNA, ANV and KNK. A. Automated sequence analyses of TGFbRII and TGFbRIIb from affected individuals in families KNA, ANV and KNK are shown. A 1-bp deletion in families KNA, ANV and KNK (arrow) generates a missense mutation indicated by the amino acid code. B. Pedigree of family KNA with a TGFβRII mutation and families ANV and KNK with TGFbRIIb mutations indicate that mutations co-segregate with disease. Mutations are present only in family members affected with TAA. Arrow indicates family proband.