A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency.
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J. Uitto | A. Klausegger | B. Kofler | J. Bauer | G. Wiche | F. Rouan | R. Hametner | W. Muss | G. Pohla-Gubo | H. Hintner | G. A. Rezniczek | I. Kornacker | A. Huber