Article
Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex.
The Journal of investigative dermatology - 1 Apr 2002
Schuilenga-Hut Petra H L, Scheffer Hans, Pas Hendri H, Nijenhuis Miranda, Buys Charles H C M, Jonkman Marcel F
Abstract excerpt
A patient with recessive epidermolysis bullosa simplex due to a previously described homozygous KRT14 1842-2A-->C splice-site mutation was re-examined, because we unexpectedly found signs of revertant mosaicism. The germline mutation resulted in different aberrant transcripts containing premature termination codons, all leading to truncated keratin 14 proteins. Basal keratinocytes in skin and in culture...
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