Article
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.
Cell - 21 Feb 1997
Jonkman M F, Scheffer H, Stulp R, Pas H H, Nijenhuis M, Heeres K, Owaribe K, Pulkkinen L, Uitto J
Abstract excerpt
Mitotic gene conversion acting as reverse mutation has not been previously demonstrated in human. We report here that the revertant mosaicism of a compound heterozygous proband with an autosomal recessive genodermatosis, generalized atrophic benign epidermolysis bullosa, is caused by mitotic gene...
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