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A -96C→T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa

✍ Scribed by Rita Gardella; Sergio Barlati; Nicoletta Zoppi; Gianluca Tadini; Marina Colombi

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 157 KB
Volume: 16
Category: Article
ISSN: 1059-7794
DOI: 10.1002/1098-1004(200009)16:3<275::aid-humu22>3.0.co;2-9

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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

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