✦ LIBER ✦

Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants

✍ Scribed by Dang, Ningning; Klingberg, Sandra; Marr, Penelope; Murrell, Dédée F.

Book ID: 119293257
Publisher: Elsevier Science
Year: 2007
Tongue: English
Weight: 1001 KB
Volume: 46
Category: Article
ISSN: 0923-1811
DOI: 10.1016/j.jdermsci.2007.02.006

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Strategy for identification of sequence

Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa

✍ Angela M. Christiano; Guy G. Hoffman; Xin Zhang; Yili Xu; Yoshiko Tamai; Daniel 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 156 KB 👁 1 views

The diagnostic hallmark of the dystrophic forms of epidermolysis bullosa (DEB), a group of heritable blistering skin diseases, is abnormalities in the anchoring fibrils at the dermal-epidermal basement membrane zone. Since type VII collagen is the major, if not the exclusive, component of the anchor

Analysis of the COL7A1 gene in Czech pat

Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations

✍ Jeřábková, Barbora; Kopečková, Lenka; Bučková, Hana; Veselý, Karel; Valíčková, J 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 414 KB

A recurrent frameshift mutation in exon

A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa

✍ J. E. Mellerio; J. C. Salas-Alanis; M. Amaya-Guera; E. Tamez; G. H. S. Ashton; R 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 297 KB

The novel p.G150R missense mutation in t

The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682+1G>A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa

✍ Drera, B.; Ritelli, M.; Tadini, G.; Zoppi, N.; Venturini, M.; Calzavara-Pinton, 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 732 KB