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Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.
Gudmundsson, Sanna; Wilbe, Maria; Ekvall, Sara; Ameur, Adam; Cahill, Nicola; Alexandrov, Ludmil B; Virtanen, Marie; Hellström Pigg, Maritta; Vahlquist, Anders; Törmä, Hans; Bondeson, Marie-Louise.
Afiliação
  • Gudmundsson S; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
  • Wilbe M; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
  • Ekvall S; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
  • Ameur A; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
  • Cahill N; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
  • Alexandrov LB; Theoretical Biology and Biophysics (T-6), Los Alamos National Laboratory, Los Alamos, NM, USA and.
  • Virtanen M; Department of Medical Sciences, Dermatology, Uppsala University, Uppsala, Sweden.
  • Hellström Pigg M; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
  • Vahlquist A; Department of Medical Sciences, Dermatology, Uppsala University, Uppsala, Sweden.
  • Törmä H; Department of Medical Sciences, Dermatology, Uppsala University, Uppsala, Sweden.
  • Bondeson ML; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Hum Mol Genet ; 26(6): 1070-1077, 2017 03 15.
Article em En | MEDLINE | ID: mdl-28158657
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação em Linhagem Germinativa / Conexina 26 / Ceratite / Mosaicismo Tipo de estudo: Prognostic_studies Limite: Adult / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Suécia
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação em Linhagem Germinativa / Conexina 26 / Ceratite / Mosaicismo Tipo de estudo: Prognostic_studies Limite: Adult / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Suécia