Collagen XVII Mutation Behind Skin Blistering Seen in Mild JEB, Study Confirms
The collagen XVII mutation p.R1303Q that causes late-onset, mild junctional epidermolysis bullosa (JEB) is characterized by a weaker collagen XVII connection to another adhesion molecule in the skin, called laminin-332, leading to blistering and thinning skin, a support study says. The study, “…