Detection of type VII collagen gene mutations in dystrophic froms of epidermolysis bullosa patients by PCR-SSCP and PCR-RFLP analyses
β Scribed by Suga, Yasushi; Ishidoh, Kazumi; Morioka, Shinji; Takamori, Kenji; Kominami, Eiki; Ogawa, Hideoki
- Book ID
- 121952841
- Publisher
- Elsevier Science
- Year
- 1993
- Tongue
- English
- Weight
- 100 KB
- Volume
- 6
- Category
- Article
- ISSN
- 0923-1811
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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
## Communicated by Michel Goossens The Hallopeau-Siemens variant of recessive dystrophic epidermolysis bullosa (HS-RDEB) is a severe inherited skin disease characterized by the absence of collagen type VII (COLVII) and anchoring fibrils (AF), caused by mutations in collagen type VII gene (COL7A1).