A recurrent nonsense mutation occurring as a de novo event in a patient with recessive dystrophic epidermolysis bullosa

Cuadrado-Corrales, N.Sánchez Jimeno, CarolinaGarcía Díez, MartaAyuso, CarmenLucas, R. deVicario, J.L.Conti, Claudio J.Zambruno, GiovannaEscámez Toledano, María JoséRío Nechaevsky, Marcela del2013-04-242013-04-242011-12Dermatology, december 2011, vol. 223, n.3, pp. 219-2211018-8665 (print)1421-9832 (online)https://hdl.handle.net/10016/16787application/pdfeng© 2011 S. Karger AG, BaselDe novo mutationDystrophic epidermolysis bullosaGenetic counselingSkin diseaseA recurrent nonsense mutation occurring as a de novo event in a patient with recessive dystrophic epidermolysis bullosaresearch articleBiología y Biomedicina10.1159/000330331open access2193221Dermatology223AR/0000009792