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Recessive dystrophic epidermolysis bullosa: Identification of a novel COL7A1 mutation of D44N

✍ Scribed by Makino, Eiichi; Nakano, Hajime; Sawamura, Daisuke; Fujimoto, Wataru

Book ID
119293866
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
560 KB
Volume
68
Category
Article
ISSN
0923-1811

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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