A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations.

Abstract excerpt

Plectin is one of the largest and most versatile cytolinker proteins known. In basal keratinocytes it links the intermediate filament network to cell membrane-associated hemidesmosomes. Several mutations in its gene have been identified that lead to the recessive disease epidermolysis bullosa with muscular dystrophy. We report here a mutation that leads to a dominant form of the disease, epidermolysis bullosa...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Epidermolysis Bullosa Simplex
• Share to Fluorescent Antibody Technique