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- Title
Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.
- Authors
Christiano, A M; McGrath, J A; Uitto, J
- Abstract
The dystrophic forms of epidermolysis bullosa (DEB) are characterized by fragility of the skin and mucous membranes. The ultrastructural hallmark of DEB is abnormalities in the anchoring fibrils. A recessively inherited variant, the mitis type of DEB (M-RDEB), is characterized by a mild phenotype, including the absence of mutilating scarring of the hands and feet. In this study, we demonstrate that M-RDEB results from the combination of a premature termination codon mutation in one COL7A1 allele, while other mutation consists of different types of genetic lesions. These results define M-RDEB as a distinct clinical entity at the molecular level.
- Publication
The Journal of investigative dermatology, 1996, Vol 106, Issue 4, p766
- ISSN
0022-202X
- Publication type
Journal Article
- DOI
10.1111/1523-1747.ep12345814