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Novel deletion mutation (c.3717del5) in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa

✍ Scribed by Sang Hee Lee; Song-Ee Kim; Eun Bee Noh; Se-Woong Oh; Soo-Chan Kim

Book ID
117940838
Publisher
John Wiley and Sons
Year
2012
Tongue
French
Weight
323 KB
Volume
40
Category
Article
ISSN
0385-2407

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Strategy for identification of sequence
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The diagnostic hallmark of the dystrophic forms of epidermolysis bullosa (DEB), a group of heritable blistering skin diseases, is abnormalities in the anchoring fibrils at the dermal-epidermal basement membrane zone. Since type VII collagen is the major, if not the exclusive, component of the anchor