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3. A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. Chavanas S; Pulkkinen L; Gache Y; Smith FJ; McLean WH; Uitto J; Ortonne JP; Meneguzzi G J Clin Invest; 1996 Nov; 98(10):2196-200. PubMed ID: 8941634 [TBL] [Abstract][Full Text] [Related]
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