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See Latest ArticlesPlectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex
Human Mutation, 02/09/10
Natsuga K et al. – The data suggest that loss of the full–length plectin isoform with residual expression of the rodless plectin isoform leads to EBS–MD, and that complete loss or marked attenuation of full–length and rodless plectin expression underlies the more severe EBS–PA phenotype. These results also clearly account for the majority of EBS–MD PLEC1 mutation restriction within the large exon 31 that encodes the plectin rod domain, whereas EBS–PA PLEC1 mutations are generally outside exon 31.
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