✦ LIBER ✦

Expression of plectin and HD1 epitopes in patients with epidermolysis bullosa simplex associated with muscular dystrophy

✍ Scribed by H. Shimizu; T. Masunaga; Y. Kurihara; K. Owaribe; G. Wiche; L. Pulkkinen; J. Uitto; T. Nishikawa

Book ID: 106079506
Publisher: Springer-Verlag
Year: 1999
Tongue: English
Weight: 882 KB
Volume: 291
Category: Article
ISSN: 0340-3696
DOI: 10.1007/s004030050449

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Severe mucous membrane involvement in ep

Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation

✍ Ulrike Schara; Jens Tücke; Wilhelm Mortier; Thomas Nüßlein; Fatima Rouan; Ellen 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 300 KB

Weber–Cockayne type of epidermolysis bul

Weber–Cockayne type of epidermolysis bullosa simplex associated with a novel mutation in keratin 5 and amyloid deposits

✍ Y-Y. Chiang; S-C. Chao; W-Y. Chen; W-R. Lee; K-H. Wang 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 465 KB

Botulinum toxin in the treatment of swea

Botulinum toxin in the treatment of sweat-worsened foot problems in patients with epidermolysis bullosa simplex and pachyonychia congenita

✍ C. Swartling; M. Karlqvist; K. Hymnelius; J. Weis; A. Vahlquist 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 124 KB

Keratin mutations in patients with epide

Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure

✍ B. Jeřábková; J. Marek; H. Bučková; L. Kopečková; K. Veselý; J. Valíčková; J. Fa 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 748 KB

Epidermolysis bullosa simplex with mottl

Epidermolysis bullosa simplex with mottled pigmentation: Clinical aspects and confirmation of the P24L mutation in theKRT5 gene in further patients

✍ Moog, U.; de Die-Smulders, C.E.M.; Scheffer, H.; van der Vlies, P.; Henquet, C.J 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 39 KB 👁 2 views

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a rare dermatologic disorder of autosomal dominant inheritance with intraepidermal blistering after minor trauma, reticular hyperpigmentation unrelated to the blistering, nail dystrophy, and mild palmoplantar keratosis. Keratin 5 an

Identification of novel and known KRT5 a

Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype

✍ M.J. Arin; G. Grimberg; H. Schumann; H. De Almeida Jr; Y.-R. Chang; G. Tadini; J 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 161 KB