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Epidermolytic ichthyosis due to a de novo missense mutation c.1307T> C; p.Leu436Pro in KRT10.
Kuske, Marvin; Berndt, Katja; Meinel, Giada; Abraham, Susanne; Oji, Vinzenz; Reicherter, Kerstin; Hörtnagel, Konstanze; Beissert, Stefan; Bauer, Andrea.
Afiliação
  • Kuske M; Department of Dermatology, Carl Gustav Carus University Medical Center, Dresden Technical University, Dresden, Germany.
  • Berndt K; Department of Dermatology, Carl Gustav Carus University Medical Center, Dresden Technical University, Dresden, Germany.
  • Meinel G; Department of Dermatology, Carl Gustav Carus University Medical Center, Dresden Technical University, Dresden, Germany.
  • Abraham S; Department of Dermatology, Carl Gustav Carus University Medical Center, Dresden Technical University, Dresden, Germany.
  • Oji V; Department of Dermatology, University of Münster, Germany.
  • Reicherter K; Practice for Human Genetics, Tübingen, Germany.
  • Hörtnagel K; Practice for Human Genetics, Tübingen, Germany.
  • Beissert S; Department of Dermatology, Carl Gustav Carus University Medical Center, Dresden Technical University, Dresden, Germany.
  • Bauer A; Department of Dermatology, Carl Gustav Carus University Medical Center, Dresden Technical University, Dresden, Germany.
J Dtsch Dermatol Ges ; 17(1): 82-84, 2019 Jan.
Article em En | MEDLINE | ID: mdl-30520551
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hiperceratose Epidermolítica / Mutação de Sentido Incorreto / Queratina-10 Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hiperceratose Epidermolítica / Mutação de Sentido Incorreto / Queratina-10 Idioma: En Ano de publicação: 2019 Tipo de documento: Article