Members

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)