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Dystrophic epidermolysis bullosa (DEB) is a condition caused by mutations in gene COL7A in which skin becomes fragile and prone to blistering. For people with DEB, any injury or friction on the skin can lead to the formation of painful blisters.
Niemann-Pick disease type C (NPC) is a rare progressive genetic disorder characterized by an inability of the body to transport cholesterol and lipids inside of cells. This leads to the abnormal accumulation of these fatty substances within various tissues of the body, including brain tissue.
