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Article

A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.

PloS one - 1 Jan 2018

van den Akker Peter C, Pasmooij Anna M G, Joenje Hans, Hofstra Robert M W, Te Meerman Gerard J, Jonkman Marcel F

Abstract excerpt

Revertant mosaicism, or "natural gene therapy", is the phenomenon in which germline mutations are corrected by somatic events. In recent years, revertant mosaicism has been identified in all major types of epidermolysis bullosa, the group of heritable blistering disorders caused by mutations in the genes encoding epidermal adhesion proteins. Moreover, revertant mosaicism appears to be present in all patients with...

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Identifiers

PMID: 29470523
DOI: 10.1371/journal.pone.0192994
PMCID: PMC5823395

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Source receipt: pubmed, retrieved 7 Sept 2026.

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