𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

✍ Scribed by W. Jiang; Y. Sun; S. Li; X.X. Chen; D.F. Bu; X.J. Zhu

Book ID
108668206
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
343 KB
Volume
152
Category
Article
ISSN
0007-0963

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Frameshift mutations in the type VII col
Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa
✍ Salas-Alanis; Mellerio; Amaya-Guerra; Ashton; Eady; Mcgrath 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 819 KB

Dystrophic epidermolysis bullosa (DEB) is caused by mutations in the type VII collagen gene (COL7A1). In this study, we assessed the molecular basis of recessive DEB in five affected individuals from two Mexican families. Both fathers of the affected children were first cousins. Genomic DNA was extr

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

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