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Expression signature of epidermolysis bullosa simplex

✍ Scribed by Mbarka Bchetnia; Marie-Lou Tremblay; Georgette Leclerc; Audrey Dupérée; Julie Powell; Catherine McCuaig; Charles Morin; Valérie Legendre-Guillemin; Catherine Laprise

Publisher
Springer
Year
2011
Tongue
English
Weight
340 KB
Volume
131
Category
Article
ISSN
0340-6717

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📜 SIMILAR VOLUMES

The clinical spectrum of epidermolysis b
The clinical spectrum of epidermolysis bullosa simplex
✍ H.M. Horn; M.J. Tidman 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB

## Abstract As part of the U.K. National Epidermolysis Bullosa Register, we have systematically recorded clinical information on 130 (77%) of the 168 known Scottish epidermolysis bullosa simplex (EBS) sufferers. Three subtypes of EBS were recognized: Dowling–Meara (EBS-DM), Weber–Cockayne (EBS-WC)

Plectin expression patterns determine tw
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex
✍ Ken Natsuga; Wataru Nishie; Masashi Akiyama; Hideki Nakamura; Satoru Shinkuma; J 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 540 KB

Plectin is a cytoskeletal linker protein that has a dumbbell-like structure with a long central rod and N-and C-terminal globular domains. Mutations in the gene encoding plectin (PLEC1) cause two distinct autosomal recessive subtypes of epidermolysis bullosa (EB): EB simplex with muscular dystrophy