✦ LIBER ✦

COL7A1mutation G2037E causes epidermal retention of type VII collagen

✍ Scribed by Daisuke Sawamura; Kazuko Sato-Matsumura; Satoko Shibata; Akari Tashiro; Masutaka Furue; Maki Goto; Kaori Sakai; Masashi Akiyama; Hideki Nakamura; Hiroshi Shimizu

Book ID: 106252118
Publisher: Nature Publishing Group
Year: 2006
Tongue: English
Weight: 421 KB
Volume: 51
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s10038-006-0378-5

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Dominant dystrophic epidermolysis bullos

Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1)

✍ Takako IWATA; Hajime NAKANO; Aoi NAKANO; Yuka TOYOMAKI; Katsuto TAMAI; Yasushi T 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 French ⚖ 223 KB

Allelic heterogeneity of type VII collag

Allelic heterogeneity of type VII collagen gene (COL7A1) mutations in epidermolysis bullosa pruriginosa

✍ Mellerio, J.E.; Ashton, G.H.S.; Salas-Alanis, J.C.; Lyon, C.C.; Griffiths, W.A.D 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 195 KB

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

Unusual dominant dystrophic epidermolysi

Unusual dominant dystrophic epidermolysis bullosa phenotype caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1)

✍ Jonkman, M.F.; Moreno, G.; Oranie, A.P.; Pulkkinen, L.; Uitto, J. 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 179 KB

A recurrent glycine substitution mutatio

A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa

✍ Mellerio; Salas-Alanis; Talamantes; Horn; Tidman; Ashton; Eady; Mcgrath 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 946 KB

Heterogeneity of mutations in the type V

Heterogeneity of mutations in the type VII collagen gene (COL7A1) in different forms of dystrophic epidermolysis bullosa

✍ Christiano, Angela M.; Hovnanian, Alain; Greenspan, Daniel S.; Uitto, Jouni 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 88 KB