Disease: Epidermolysis bullosa dystrophica- Pasini type
- A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa
- Autosomal dominant epidermolysis bullosa dystrophica: are the Cockayne-Touraine, the Pasini and the Bart-types different expressions of the same mutant gene?
- Contribution of a case on epidermolysis bullosa hereditaria dystrophica, albopapuloid type of Pasini
- Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1)
- Dominant dystrophic epidermolysis bullosa albopapuloidea Pasini -- ultrastructural observations of albopapuloid lesions and a type VII collagen DNA polymorphism study of a family
- Estimated Spending on Beremagene Geperpavec for Dystrophic Epidermolysis Bullosa
- Importance of thorough removal of all affected tissues before grafting epidermolysis bullosa lesions: ten-year follow-up of one patient with multiple grafts
- Neonatal epidermolysis bullosa: lessons to learn about genetic counseling
- Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic
- Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen
- Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants
- Ultrastructural studies in epidermolysis bullosa heriditaria. I. Dominant dystrophic type of Pasini