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Large Deletions Targeting the Triple-Helical Domain of Collagen VII Lead to Mild Acral Dominant Dystrophic Epidermolysis Bullosa.
Chmel, Nadja; Bornert, Olivier; Hausser, Ingrid; Grüninger, Gabriele; Borozkin, Wiktor; Kohlhase, Jürgen; Nyström, Alexander; Has, Cristina.
Afiliação
  • Chmel N; Department of Dermatology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
  • Bornert O; Department of Dermatology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
  • Hausser I; Institute of Pathology, University Hospital Heidelberg, Germany.
  • Grüninger G; Department of Dermatology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
  • Borozkin W; SYNLAB Center for Human Genetics, Freiburg, Germany.
  • Kohlhase J; SYNLAB Center for Human Genetics, Freiburg, Germany.
  • Nyström A; Department of Dermatology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
  • Has C; Department of Dermatology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Germany. Electronic address: cristina.has@uniklinik-freiburg.de.
J Invest Dermatol ; 138(4): 987-991, 2018 04.
Article em En | MEDLINE | ID: mdl-29179948

Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA / Epidermólise Bolhosa Distrófica / Deleção de Sequência / Colágeno Tipo VII Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA / Epidermólise Bolhosa Distrófica / Deleção de Sequência / Colágeno Tipo VII Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article