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Cell, v.88 no.4, 1997년, pp.543 - 551
Jonkman, Marcel F (Department of Dermatology, University Hospital Groningen, NL-9700 RB Groningen, The Netherlands) , Scheffer, Hans (Department of Medical Genetics, University of Groningen, NL-9713 AW Groningen, The Netherlands) , Stulp, Rein (Department of Medical Genetics, University of Groningen, NL-9713 AW Groningen, The Netherlands) , Pas, Hendri H (Department of Dermatology, University Hospital Groningen, NL-9700 RB Groningen, The Netherlands) , Nijenhuis, Miranda (Department of Dermatology, University Hospital Groningen, NL-9700 RB Groningen, The Netherlands) , Heeres, Klaas (Department of Dermatology, University Hospital Groningen, NL-9700 RB Groningen, The Netherlands) , Owaribe, Katsushi (Department of Molecular Biology, Nagoya University School of Medicine, Nagoya-Shi 464–) , Pulkkinen, Leena (01, Japan) , Uitto, Jouni (Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA)
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AbstractMitotic 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...
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