✦ LIBER ✦

COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa

✍ Scribed by S-W. Oh; J.S. Lee; M.Y. Kim; S-C. Kim

Book ID: 108669683
Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 644 KB
Volume: 157
Category: Article
ISSN: 0007-0963
DOI: 10.1111/j.1365-2133.2007.08191.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

The international dystrophic epidermolys

The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations

✍ Peter C. van den Akker; Marcel F. Jonkman; Trebor Rengaw; Leena Bruckner-Tuderma 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 353 KB

Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder that can be inherited autosomal dominantly (DDEB) or recessively (RDEB) and covers a group of several distinctive phenotypes. A large number of unique COL7A1 mutations have been shown to underlie DEB. Although general genotype

Differences in recurrent COL7A1 mutation

Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations

✍ Takayuki Murata; Takuji Masunaga; Akira Ishiko; Hiroshi Shimizu; Takeji Nishikaw 📂 Article 📅 2004 🏛 Springer-Verlag 🌐 English ⚖ 203 KB

Prenatal diagnosis of dominant dystrophi

Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1 molecular analysis

✍ S. Klingberg; R. Mortimore; J. Parkes; J. E. D. Chick; A. E. Clague; D. Murrell; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 170 KB 👁 1 views

Molecular basis of dystrophic epidermoly

Molecular basis of dystrophic epidermolysis bullosa: Mutations in the type VII collagen gene (COL7A1)

✍ Anitta Järvikallio; Leena Pulkkinen; Jouni Uitto 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 260 KB 👁 1 views

Epidermolysis bullosa (EB), a group of heritable blistering diseases characterized by tissue separation within the cutaneous basement membrane zone, is inherited either in an autosomal dominant or autosomal recessive fashion. EB has been divided into four broad categories based on the precise level

Branch point and donor splice-site COL7A

Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa

✍ B. Drera; G. Floriddia; F. Forzano; S. Barlati; G. Zambruno; M. Colombi; D. Cast 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 363 KB

Two novel heterozygous mutations in COL7

Two novel heterozygous mutations in COL7A1 in a Chinese patient with recessive dystrophic epidermolysis bullosa of Hallopeau–Siemens type

✍ W. Jiang; Y. Sun; S. Li; X.X. Chen; D.F. Bu; X.J. Zhu 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 343 KB