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

✍ Scribed by Jonkman, M.F.; Moreno, G.; Oranie, A.P.; Pulkkinen, L.; Uitto, J.


Book ID
119562015
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
179 KB
Volume
16
Category
Article
ISSN
0923-1811

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Molecular basis of dystrophic epidermoly
✍ 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