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A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa

✍ Scribed by J. E. Mellerio; J. C. Salas-Alanis; M. Amaya-Guera; E. Tamez; G. H. S. Ashton; R. Mohammedi; R. A. J. Eady; J. A. McGrath


Book ID
111243895
Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
297 KB
Volume
8
Category
Article
ISSN
0906-6705

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Frameshift mutations in the type VII col
✍ Salas-Alanis; Mellerio; Amaya-Guerra; Ashton; Eady; Mcgrath πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 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
✍ 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