COL7A1 and Its Role in Dystrophic Epidermolysis Bullosa
作者： Ningning Dang , Dédée F. Murrell
DOI: 10.1007/978-3-662-45698-9_11
关键词:
摘要: Type VII collagen is the major component of anchoring fibrils (AF) that anchor basal lamina to dermal fibrils. It encoded by gene (COL7A1). Dystrophic epidermolysis bullosa (DEB) an inherited skin fragility disorder, and blistering occurs in sub-lamina densa zone at level AF. DEB results from different mutations type The nature COL7A1 their positions correlate reasonably logically with severity resulting phenotypes dystrophic EB.
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