McGrath, J A

Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations. [electronic resource] - The Journal of investigative dermatology Sep 1999 - 314-21 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0022-202X

10.1046/j.1523-1747.1999.00709.x doi


Adolescent
Adult
Cell Adhesion Molecules--genetics
Collagen--genetics
Desmosomes--ultrastructure
Epidermolysis Bullosa Dystrophica--genetics
Epidermolysis Bullosa, Junctional--genetics
Exons
Female
Fluorescent Antibody Technique
Frameshift Mutation
Humans
Microscopy, Electron
Mutation
Phenotype
Reverse Transcriptase Polymerase Chain Reaction
Skin--ultrastructure
Kalinin