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Figure 4 (A) The G2375R mutation in the desmoplakin gene (bold) is a g to c substitution. (B) The protein sequence alignment of the mutated region in the human desmoplakin (HS DSP), in desmoplakin of other species (Mus musculus, Rattus norvegicus and Cricetulus griseus) and in other human plakin family members (PLE = plectin, EPP = epiplakin, BPA = bullos pemphigoid antigen1). The glycin in position 2375 of the human desmoplakin (bold) is extremely conserved.





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