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A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency.
Bauer JW, Rouan F, Kofler B, Rezniczek GA, Kornacker I, Muss W, Hametner R, Klausegger A, Huber A, Pohla-Gubo G, Wiche G, Uitto J, Hintner H. Bauer JW, et al. Among authors: kornacker i. Am J Pathol. 2001 Feb;158(2):617-25. doi: 10.1016/S0002-9440(10)64003-5. Am J Pathol. 2001. PMID: 11159198 Free PMC article.