𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

✍ Scribed by B.-J. Shi; J. Feng


Book ID
108695184
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
164 KB
Volume
34
Category
Article
ISSN
0307-6938

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Recessive dystrophic epidermolysis bullo
✍ Matthias Titeux; JosΓ© Enrique MejΓ­a; LucinΓ© Mejlumian; Sylvie Bourthoumieu; Sand πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 416 KB

Loss-of-function mutations in the gene encoding type VII collagen, COL7A1, are the molecular basis of the blistering skin disorder, recessive dystrophic epidermolysis bullosa (RDEB). COL7A1 maps to a region of the short arm of chromosome 3 that has been found to be deleted in many types of malignanc

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