A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations

Koss-Harnes D, Høyheim B, Anton-Lamprecht I, Gjesti A, Jørgensen RS, Jahnsen FL, Olaisen B, Wiche G, Gedde-Dahl T (2002)
nA site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations
nJ Invest Dermatol, 118 (1), 87-93
nPubMed 11851880 DOI 10.1046/j.0022-202x.2001.01591.x