✦ LIBER ✦

Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases

✍ Scribed by K. Yasukawa; D. Sawamura; M. Goto; H. Nakamura; S-Y. Jung; S-C. Kim; H. Shimizu

Book ID: 108668844
Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 225 KB
Volume: 155
Category: Article
ISSN: 0007-0963
DOI: 10.1111/j.1365-2133.2006.07285.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

COL7A1 mutational analysis in Korean pat

COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa

✍ S-W. Oh; J.S. Lee; M.Y. Kim; S-C. Kim 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 644 KB

Cytokines as genetic modifiers in K5–/–

Cytokines as genetic modifiers in K5–/– mice and in human epidermolysis bullosa simplex

✍ Wera Roth; Ursula Reuter; Claudia Wohlenberg; Leena Bruckner-Tuderman; Thomas M. 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 554 KB

Epidermolysis bullosa simplex (EBS) is a skin disorder caused by fully-penetrant mutations in the keratin genes KRT5 and KRT14, leading to extensive cytolysis and cell fragility of basal keratinocytes. EBS is subject to environmental conditions and displays high intra-and interfamilial variability,

Mutations in KRT5 and KRT14 cause epider

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients

✍ M.C. Bolling; H.H. Lemmink; G.H.L. Jansen; M.F. Jonkman 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 229 KB

Eosinophil infiltration in three patient

Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studies

✍ Masayo Nomura; Yoh-ichiro Hamasaki; Ichiro Katayama; Kuniko Abe; Norio Niikawa; 📂 Article 📅 2005 🏛 Nature Publishing Group 🌐 English ⚖ 479 KB

Novel keratin 5 and 14 gene mutations in

Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland

✍ Takahiro Hamada; Yuko Kawano; Weronika Szczecinska; Katarzyna Wozniak; Shinichir 📂 Article 📅 2005 🏛 Springer-Verlag 🌐 English ⚖ 234 KB

Expression of plectin and HD1 epitopes i

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

✍ H. Shimizu; T. Masunaga; Y. Kurihara; K. Owaribe; G. Wiche; L. Pulkkinen; J. Uit 📂 Article 📅 1999 🏛 Springer-Verlag 🌐 English ⚖ 882 KB