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 conversion of one of the two mutated COL17A1 alleles. Specifically, the maternal allele surrounding the mutation site...
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