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A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa

✍ Scribed by G. S. Chuang; A. Martinez-Mir; H.-S. Yu; F.-Y. Sung; R. Y. Chuang; P. B. Cserhalmi-Friedman; A. M. Christiano

Book ID
108692487
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
174 KB
Volume
29
Category
Article
ISSN
0307-6938

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Molecular basis of dystrophic epidermoly
Molecular basis of dystrophic epidermolysis bullosa: Mutations in the type VII collagen gene (COL7A1)
✍ Anitta JΓ€rvikallio; Leena Pulkkinen; Jouni Uitto πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 260 KB πŸ‘ 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