[HTML][HTML] Characterization of molecular mechanisms underlying mutations in dystrophic epidermolysis bullosa using site-directed mutagenesis
DT Woodley, Y Hou, S Martin, W Li, M Chen - Journal of biological …, 2008 - ASBMB
Type VII collagen (C7) is a major component of anchoring fibrils, structures that mediate
epidermal-dermal adherence. Mutations in gene COL7A1 encoding for C7 cause dystrophic
epidermolysis bullosa (DEB), a genetic mechano-bullous disease. The biological
consequences of specific COL7A1 mutations and the molecular mechanisms leading to
DEB clinical phenotypes are unknown. In an attempt to establish genotype-phenotype
relationships, we generated four individual substitution mutations that have been associated …
epidermal-dermal adherence. Mutations in gene COL7A1 encoding for C7 cause dystrophic
epidermolysis bullosa (DEB), a genetic mechano-bullous disease. The biological
consequences of specific COL7A1 mutations and the molecular mechanisms leading to
DEB clinical phenotypes are unknown. In an attempt to establish genotype-phenotype
relationships, we generated four individual substitution mutations that have been associated …