Forschung & Innovation
Publikationen
A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency.
PMU Autor*innen
Johann Bauer, Barbara Kofler, Wolfgang Muss, Alfred Klausegger, Helmut Hintner
Alle Autor*innen
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
Fachzeitschrift
AMERICAN JOURNAL OF PATHOLOGY
Kurzfassung
Keywords
ASSOCIATION, MUSCLE, DYNAMICS, ORGANIZATION, BINDING, CYTOSKELETON, MUSCULAR-DYSTROPHY, ACTIN, SUBUNIT, INTERMEDIATE FILAMENTS