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Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes.
Knöpfel, Nicole; Noguera-Morel, Lucero; Hernández-Martin, Angela; García-Martin, Adela; García, Marta; Mencía, Ángeles; Pedrero, Rocío Maseda; de Lucas, Raúl; Escámez, Maria José; Torrelo, Antonio.
Affiliation
  • Knöpfel N; Department of Dermatology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
  • Noguera-Morel L; Department of Dermatology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
  • Hernández-Martin A; Department of Dermatology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
  • García-Martin A; Department of Bioengineering, Universidad Carlos III de Madrid (UC3M), CIEMAT-Centro de Investigación Biomédica en Red de Enfermedades Raras (U714-CIBERER), Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz (IISFJD), Madrid, Spain.
  • García M; Department of Bioengineering, Universidad Carlos III de Madrid (UC3M), CIEMAT-Centro de Investigación Biomédica en Red de Enfermedades Raras (U714-CIBERER), Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz (IISFJD), Madrid, Spain.
  • Mencía Á; Department of Bioengineering, Universidad Carlos III de Madrid (UC3M), CIEMAT-Centro de Investigación Biomédica en Red de Enfermedades Raras (U714-CIBERER), Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz (IISFJD), Madrid, Spain.
  • Pedrero RM; Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain.
  • de Lucas R; Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain.
  • Escámez MJ; Department of Bioengineering, Universidad Carlos III de Madrid (UC3M), CIEMAT-Centro de Investigación Biomédica en Red de Enfermedades Raras (U714-CIBERER), Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz (IISFJD), Madrid, Spain.
  • Torrelo A; Department of Dermatology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
Pediatr Dermatol ; 35(2): e94-e98, 2018 Mar.
Article in En | MEDLINE | ID: mdl-29272047
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Full text: 1 Database: MEDLINE Main subject: Epidermolysis Bullosa Dystrophica / Collagen Type VII Type of study: Prognostic_studies Limits: Adult / Child / Child, preschool / Female / Humans / Male Language: En Year: 2018 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Epidermolysis Bullosa Dystrophica / Collagen Type VII Type of study: Prognostic_studies Limits: Adult / Child / Child, preschool / Female / Humans / Male Language: En Year: 2018 Type: Article