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2. 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 J Invest Dermatol; 2002 Jan; 118(1):87-93. PubMed ID: 11851880 [TBL] [Abstract][Full Text] [Related]
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8. Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplex. Natsuga K; Nishie W; Nishimura M; Shinkuma S; Watanabe M; Izumi K; Nakamura H; Hirako Y; Shimizu H Hum Mutat; 2017 Dec; 38(12):1666-1670. PubMed ID: 28941359 [TBL] [Abstract][Full Text] [Related]
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11. Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation. Schara U; Tücke J; Mortier W; Nüsslein T; Rouan F; Pfendner E; Zillikens D; Bruckner-Tuderman L; Uitto J; Wiche G; Schröder R Eur J Pediatr; 2004 Apr; 163(4-5):218-22. PubMed ID: 14963703 [TBL] [Abstract][Full Text] [Related]
12. Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene. Kunz M; Rouan F; Pulkkinen L; Hamm H; Jeschke R; Bruckner-Tuderman L; Bröcker EB; Wiche G; Uitto J; Zillikens D J Invest Dermatol; 2000 Feb; 114(2):376-80. PubMed ID: 10652001 [TBL] [Abstract][Full Text] [Related]
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