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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-29179948
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA / Epidermolysis Bullosa Dystrophica / Sequence Deletion / Collagen Type VII Type of study: Diagnostic_studies Limits: Female / Humans / Male Language: En Journal: J Invest Dermatol Year: 2018 Document type: Article Affiliation country: Germany Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA / Epidermolysis Bullosa Dystrophica / Sequence Deletion / Collagen Type VII Type of study: Diagnostic_studies Limits: Female / Humans / Male Language: En Journal: J Invest Dermatol Year: 2018 Document type: Article Affiliation country: Germany Country of publication: United States