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Fig. 8. Illustration of Cx43 protein structure showing known human ODDD mutations.
Known human mutations resulting in ODDD
(Kjaer et al., 2004;
Paznekas et al., 2003;
Richardson et al., 2004;
van Steensel et al., 2005;
Vitiello et al., 2005) are
highlighted in red with the Gja1Jrt mutation (G60S)
highlighted in black. Missense mutations are denoted by the correct amino acid
followed by the number and the substituted amino acid. The duplication (dup)
and frameshift (FS) mutations are indicated by amino acid number followed by
dup and FS, respectively.
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