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COL7s

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COL7A1

Pathology of type VII collagen

- COL7A1 mutations

  • COL7A1 : autosomal recessive epidermolysis bullosa dystrophica (MIM.226600)
  • COL7A1 : autosomal dominant epidermolysis bullosa dystrophica (MIM.131750)
  • COL7A1 : pretibial epidermolysis bullosa (MIM.131850)
  • COL7A1 : mild form of localized recessive epidermolysis bullosa dystrophica (MIM.226600)
  • COL7A1 : transient bullous dermolysis of the newborn (TBDN) (MIM.131705)
  • COL7A1 : autosomal dominant epidermolysis bullosa pruriginosa (MIM.604129)
  • COL7A1 : autosomal recessive epidermolysis bullosa pruriginosa (MIM.604129)
  • COL7A1 : isolated nail dystrophy (MIM.607523)