𝔖 Bobbio Scriptorium
✦   LIBER   ✦

High frequency of the 425A→G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa

✍ Scribed by M. Csikós; H.I. Szőcs; A. Lászik; S. Mecklenbeck; A. Horváth; S. Kárpáti; L. Bruckner-Tuderman


Book ID
108668113
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
353 KB
Volume
152
Category
Article
ISSN
0007-0963

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Strategy for identification of sequence
✍ Angela M. Christiano; Guy G. Hoffman; Xin Zhang; Yili Xu; Yoshiko Tamai; Daniel 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 156 KB 👁 1 views

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