Research & Innovation
Publications
A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency.
PMU Authors
Johann Bauer, Barbara Kofler, Wolfgang Muss, Alfred Klausegger, Helmut Hintner
All Authors
Johann Bauer, F. Rouan, Barbara Kofler, G A Rezniczek, I. Kornacker, Wolfgang Muss, R. Hametner, Alfred Klausegger, A. Huber, G. Pohla-Gubo, G. Wiche, J. Uitto, Helmut Hintner
Journal association
AMERICAN JOURNAL OF PATHOLOGY
Abstract
Keywords
ASSOCIATION, MUSCLE, DYNAMICS, ORGANIZATION, BINDING, CYTOSKELETON, MUSCULAR-DYSTROPHY, ACTIN, SUBUNIT, INTERMEDIATE FILAMENTS