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Analysis of the mechanism underlying a mild phenotype of hereditary coproporphyria due to a homozygous missense mutation in the transcription initiation codon of the coproporphyrinogen III oxidase gene.
Fukui, Tomohisa; Akasaka, Eijiro; Rokunohe, Daiki; Matsuzaki, Yasushi; Sawamura, Daisuke; Kabashima, Kenji; Nakano, Hajime.
Afiliação
  • Fukui T; Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
  • Akasaka E; Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
  • Rokunohe D; Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
  • Matsuzaki Y; Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
  • Sawamura D; Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
  • Kabashima K; Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Nakano H; Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan. Electronic address: hnakano@hirosaki-u.ac.jp.
J Dermatol Sci ; 100(2): 156-159, 2020 Nov.
Article em En | MEDLINE | ID: mdl-33008663
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Códon de Iniciação / Coproporfirinogênio Oxidase / Coproporfiria Hereditária Tipo de estudo: Diagnostic_studies Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Códon de Iniciação / Coproporfirinogênio Oxidase / Coproporfiria Hereditária Tipo de estudo: Diagnostic_studies Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article